Search

The present report aimed to document the clinical features of a case of Marshall-Smith syndrome (MSS), an extremely rare embryonic developmental disorder with associated craniosynostosis. We presented herein a case of a 2-year-old female patient with MSS who underwent fronto-orbital advancement for multisuture craniosynostosis. The patient’s proptosis improved after surgery, and no further surgical intervention was required for corneal exposure. A second FOA followed by revision tarsorrhaphy further improved eye closure. Surgical procedures to correct dysplastic features and limit neurological impairment are a worthwhile supportive treatment for improving the quality of life and general condition of patients with MSS.

Marshall-Smith syndrome (MSS) is a rare genetic condition characterized by different clinical features, such as accelerated skeletal maturation, growth retardation, neuropsychomotor delay, and characteristic facial abnormalities. This study describes a 2-year-old boy presenting longiline appearance, macrocephalus with trigonocephaly, prominent eyes with bluish sclera, middle face hypoplasia, micrognathia, dysplastic ears, hirsutism, narrow and asymmetrical thorax, hypoplastic scrotal sac, cryptorchidism, joint laxity, hypoplastic toenails, and large sacral dimple with prominent coccyx. Abdominal ultrasonography showed an enlarged left ectopic kidney and skull computed tomography revealed signs of early closure of the metopic suture. High-resolution GTG banding karyotype and high-density CytoScan HD array did not identify abnormalities associated to the patient clinical findings. NFIX sequencing revealed a de novo variant consisted of a seven nucleotides duplication in exon 8. We suggest that some clinical findings, as glaucoma, trigonocephaly and ectopic kidney are underestimated and should be considered within the clinical spectrum of the syndrome. In addition, the NFIX variant identified in our patient is unusual among patients with MSS and has not yet been described in the literature. We present some mechanisms that could be involved in the impairment of proper NFIX protein function.

Malan syndrome is an overgrowth disorder described in a limited number of individuals. We aim to delineate the entity by studying a large group of affected individuals. We gathered data on 45 affected individuals with a molecularly confirmed diagnosis through an international collaboration and compared data to the 35 previously reported individuals. Results indicate that height is > 2 SDS in infancy and childhood but in only half of affected adults. Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip and prominent chin. Intellectual disability is universally present, behaviorally anxiety is characteristic. Malan syndrome is caused by deletions or point mutations of NFIX clustered mostly in exon 2. There is no genotype-phenotype correlation except for an increased risk for epilepsy with 19p13.2 microdeletions. Variants arose de novo, except in one family in which mother was mosaic. Variants causing Malan and Marshall-Smith syndrome can be discerned by differences in the site of stop codon formation. We conclude that Malan syndrome has a well recognizable phenotype that usually can be discerned easily from Marshall-Smith syndrome but rarely there is some overlap. Differentiation from Sotos and Weaver syndrome can be made by clinical evaluation only. This article is protected by copyright.

BACKGROUND: Ultrarare Marshall-Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development and behaviour are studied and compared in a cross-sectional study, and results are presented with genetic findings. METHODS: Behavioural phenotypes are compared of eight individuals with Marshall-Smith syndrome (three male individuals) and seven with Malan syndrome (four male individuals). Long-term follow-up assessment of cognition and adaptive behaviour was possible in three individuals with Marshall-Smith syndrome. RESULTS: Marshall-Smith syndrome individuals have more severe ID, less adaptive behaviour, more impaired speech and less reciprocal interaction compared with individuals with Malan syndrome. Sensory processing difficulties occur in both syndromes. Follow-up measurement of cognition and adaptive behaviour in Marshall-Smith syndrome shows different individual learning curves over time. CONCLUSIONS: Results show significant between and within syndrome variability. Different NFIX variants underlie distinct clinical phenotypes leading to separate entities. Cognitive, adaptive and sensory impairments are common in both syndromes and increase the risk of challenging behaviour. This study highlights the value of considering behaviour within developmental and environmental context. To improve quality of life, adaptations to environment and treatment are suggested to create a better person-environment fit.

Marshall–Smith syndrome (MSS) is a rare syndrome characterized by facial dysostosis, respiratory difficulties, mental retardation, and short height [1]. MSS is thought to be associated with NFIX gene mutation [2]. Spine deformity due to a primary abnormality in bone morphogenesis is also reported in the literature [3]. Untreated progressive spinal deformity in a young MSS patient may cause serious health consequences. Therefore, surgical intervention for progressive kyphoscoliosis in a patient with MSS needs to be conducted at an appropriate time. So far, there has been no report regarding surgical correction of spinal deformity in MSS. However, because of dysostosis, spinal canal dysplasia such as cervical canal stenosis may also present in MSS patients [3–5]. Here, we report an MSS patient who underwent surgical correction of severe kyphoscoliosis and came through a neurological complication resulting from cervical canal stenosis.

Malan syndrome and Marshall-Smith syndrome (MSS) are allelic disorders caused by mutation in NFIX gene. We report a 3-year- 6 months- old female with clinical features suggestive of Malan syndrome with mutation in exon 2 of NFIX gene. NFIX gene, where most of the mutations in Malan syndrome are located. She did not have advanced bone age. The radiographs of long bones showed metaphyseal changes which were not reported previously. This study reports the first mutation proven case from India and highlights the overlap between MSS and Malan syndrome.

Marshall-Smith Syndrome (MRSHSS) is a very rare genetic disorder characterized by failure to thrive and characteristic dysmorphic features associated with accelerated osseous maturation. We present a nine-year-old girl who was diagnosed with MRSHSS based on characteristic clinical features supported by the identification of a novel de novo pathogenic variant in the NFIX gene. The patient also presented with precocious puberty diagnosed at five years of age and had an abnormal GnRH stimulation test indicative of central precocious puberty. Central precocious puberty has not been described in association with MRSHSS previously in the medical literature and broadens our knowledge of the natural history of MRSHSS. The causes of advanced bone age in this syndrome are also reviewed. Additionally, the patient showed progressive dilatation of the aortic root. Although connective tissue abnormalities have been described in association with MRSHSS, aortic root dilatation has not. Understanding the mechanism of comorbidities such as advanced bone age and aortic root dilatation in MRSHSS patients enables future development of anticipatory guidance, preventative care measures, and treatment guidelines.

The Marshall-Smith syndrome is a very rare disorder with early overgrowth and was first reported by Marshall et al. in 1971. Patients with the Marshall-Smith syndrome have characteristic facial features and systemic congenital abnormalities. In many cases, patients die early in the postnatal period due to respiratory disorders. We treated a male child with this syndrome with plastic surgery to improve facial features - the first effort of its kind in the world. We report good results from the surgery. The treatment included bilateral mandibular distraction osteogenesis for micrognathia and tracheostomy weaning. Six months later, LeFort III maxillary distraction osteogenesis was performed for maxillary hypoplasia. The clinical course was uneventful after both surgeries. At the time of this report, facial appearance and occlusal conditions have improved markedly, although the tracheal stoma could not be closed. The patient is a long-term survivor of this condition. After considering quality-of-life issues for the patient, surgical treatment was offered for facial dysmorphism. This type of effort has not yet been reported in the literature. For patients with the Marshall-Smith syndrome who are expected to survive long, surgical treatment should be strongly considered to improve the quality of life of the affected child.

This case reports highlights of the feeding problems in Marshall-Smith syndrome and the weaning from a tube in a 5-year-old patient. The patient, Maya, showed the typical signs of this rare disease. The diagnosis of Marshall-Smith syndrome was made at the age of 2½ years. Because of respiratory problems and a high risk of aspiration, Maya got a percutaneous endoscopic gastrostomy (PEG) tube at the age of 5 months. After stabilization of her respiratory situation, Maya was able to eat from a strictly medical point of view. Maya was admitted to the authors’ ward dependent on a PEG tube, but her parents wanted her to be weaned from the tube. In contrast to other patients with Marshall-Smith syndrome, Maya’s typical respiratory problems stabilized, and on the basis of the little experience published in the literature, Maya seems to have a relatively good life expectancy. After careful analysis of her medical state, Maya was integrated into the specialized tube-weaning program. Tube weaning was successful, and after 3 weeks of treatment, Maya was able to gain weight by exclusive and self-regulated oral intake. In conclusion, this case report shows that weaning a child with Marshall-Smith syndrome from a feeding tube is possible and gives these children the chance to gain weight by oral intake, as any healthy child does. The reachable eating skills depend on the grade of disability. In the authors’ clinical experience, weaning from a tube shows a positive effect on psychomotor development and reduces the mortality rate and the rate of complications associated with tube feeding itself.

The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. At least 33 cases have been reported in the literature, mostly as single case reports or small series. The purpose of the present study is to report on the clinical findings and natural history of MSS in five children and to review the features of three others previously reported, with particular attention to the skeletal and connective tissue findings. Our study demonstrates an increased rate of nontraumatic fractures and other bony and connective tissue abnormalities that support the hypothesis that MSS should be considered an osteochondrodysplasia. In addition, long-term survival beyond infancy is possible if respiratory problems are expectantly and aggressively managed. (c) 2005 Wiley-Liss, Inc

Marshall-Smith syndrome is characterized by accelerated osseous maturation, craniofacial anomalies, failure to thrive, psychomotor delay, hypotonia, pulmonary dysfunction, and limited life expectancy. We describe a 7-year-old girl who, in addition to meeting these criteria for Marshall-Smith syndrome, had multiple fractures and skeletal anomalies. The purpose of this report is to draw attention to Marshall-Smith syndrome as one of the skeletal dysplasias characterized by osseous fragility.

Marshall-Smith Syndrome (OMIM 602535) was described initially by Marshall in two infants with a syndrome characterized by accelerated skeletal maturation, failure to thrive, and dysmorphic facial features. We report a new patient with clinical features of Marshall-Smith syndrome with additional findings such as hyperpigmented lines on trunk and the four extremities. © 2011 Wiley-Liss, Inc.

Only 15 point mutations in NFIX gene have been reported so far, nine of them cause the Marshall-Smith syndrome (MSS) and the remaining mutations lead to an overgrowth disorder with a less severe phenotype, defined as Sotos-like. The clinical findings in three patients with MSS and two patients with a Sotos-like phenotype are presented. Analysis of the NFIX gene was performed both by conventional or next-generation sequencing. Five de novo mutations in NFIX gene were identified, four of them not previously reported. Two frameshift mutations and a donor-splice one caused MSS, while two missense mutations in the DNA binding/dimerisation domain entailed an overgrowth syndrome with some clinical features resembling Sotos syndrome, accompanied by a marfanoid habitus, very low BMI, long narrow face, or arachnodactyly. Marshall-Smith mutations are scattered through exons 6–10 of NFIX gene, while most point mutations causing an overgrowth syndrome are clustered in exon 2. Clinical features of this overgrowth syndrome may well be considered an intermediate phenotype between Sotos and Marfan syndromes.

We describe a girl with physical anomalies, accelerated skeletal maturation, failure to thrive, and respiratory difficulties consistent with a diagnosis of Marshall-Smith syndrome (MSS). Chromosome analysis showed an inverted duplication of chromosome 2 [46,XX,inv dup(2)(q37q32) de novo] identified by G banding and confirmed by FISH. Several cases of trisomy 2q3 have been reported and established a syndrome, but the present case is the first to be associated with accelerated skeletal maturation and a clinical picture resembling MSS. This raises the possibility that the cause of MSS involves the q3 region of chromosome 2. Few reports of MSS include study of the karyotype, although the chromosomes were apparently normal in those cases where they have been examined. We suggest that karyotyping be undertaken with particular attention to the 2q3 region in patients with suspected MSS. It also would be prudent to assess bone age in all children with trisomy 2q.

Marshall-Smith syndrome is a rare clinical disorder characterized by accelerated bone maturation, dysmorphic facial features, airway abnormalities and death in early infancy because of respiratory complications. Although patients with Marshall-Smith syndrome have several features with potential anaesthetic problems, previous reports about anaesthetic management of these patients do not exist. We present a case, in which severe hypoxia developed rapidly after routine anaesthesia induction in an eight-month-old male infant with this syndrome. After several unsuccessful attempts the airway was finally secured by blind oral intubation. After 2 weeks, laryngeal anatomy was examined with fibreoptic laryngoscopy which revealed significant laryngomalacia. Laryngoscopy was performed without problems with ketamine anaesthesia and spontaneous breathing. The possibility of a compromised airway should always be borne in mind when anaesthetizing patients with Marshall-Smith syndrome. Anaesthesia maintaining spontaneous breathing is safest for children with this syndrome. If tracheal intubation or muscle relaxation is required, precautions are needed to maintain a patent airway. Muscle relaxants should possibly be avoided before intubation.

Marshall-Smith syndrome is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation. Respiratory problems are a major cause of early morbidity and mortality. Ocular features have been mentioned in previous reports, but details are limited. This report describes the clinical features of a child with typical features of Marshall-Smith syndrome with emphasis on visual function. She had megalocornea, hypoplastic optic discs and was partially sighted. Aggressive management of the early respiratory and feeding problems improved survival in this child.

Marshall-Smith syndrome (MSS) is a very rare malformation syndrome characterized by typical craniofacial anomalies, abnormal osseous maturation, developmental delay, failure to thrive, and respiratory difficulties. Mutations in the nuclear factor 1/X gene (NFIX) were recently identified as the cause of MSS. In our study cohort of 17 patients with a clinical diagnosis of MSS, conventional sequencing of NFIX revealed frameshift and splice-site mutations in 10 individuals. Using multiplex ligation-dependent probe amplification analysis, we identified a recurrent deletion of NFIX exon 6 and 7 in five individuals. We demonstrate this recurrent deletion is the product of a recombination between AluY elements located in intron 5 and 7. Two other patients had smaller deletions affecting exon 6. These findings show that MSS is a genetically homogeneous Mendelian disorder. RT-PCR experiments with newly identified NFIX mutations including the recurrent exon 6 and 7 deletion confirmed previous findings indicating that MSS-associated mutant mRNAs are not cleared by nonsense-mediated mRNA decay. Predicted MSS-associated mutant NFIX proteins consistently have a preserved DNA binding and dimerization domain, whereas they grossly vary in their C-terminal portion. This is in line with the hypothesis that MSS-associated mutations encode dysfunctional proteins that act in a dominant negative manner.

Marshall-Smith syndrome is a rare disorder characterized by accelerated skeletal maturation, bullet-shaped proximal and middle phalanges, dysmorphic facial features, and failure to thrive, and is often associated with mental retardation of variable degree. We describe an 8-month-old female with this syndrome, who has a hypoplastic corpus callosum and extreme upper airway obstruction requiring tracheostomy. Also, we review the previous reports of this syndrome since 1971 (Marshall et al., 1971).

A 15-year-old boy with Marshall-Smith syndrome presented with increased frequency and urgency of stooling, hematochezia, and rectal pain. A polypoid mass was found at the anorectal junction and excised. Microscopically, the lesion was covered by both squamous and columnar mucosa. It was villiform in configuration with focal ulceration and strands of smooth muscle in the lamina propria. These features are characteristic of an inflammatory cloacogenic polyp, a lesion not previously reported in the pediatric age group. Inflammatory cloacogenic polyp is related to solitary rectal ulcer syndrome and is most likely due to prolapse of the anorectal transition zone. Although rare in this age group, solitary rectal ulcer and its variants should be considered in the differential diagnosis of anorectal and rectal lesions in the pediatric patient.

Marshall-Smith syndrome (MSS) is a distinctive entity of unknown etiology with fewer than 50 patients described in the medical literature to date. Through an International collaboration and use of an online wiki to facilitate data collection and sharing, we further delineate the phenotype and natural history of this syndrome. We present 15 new patients, the oldest being 30 years, provide an update on four previously published cases, and compare all patients with other patients reported in literature. Main clinical features are moderate to severe developmental delay with absent or limited speech, unusual behavior, dysharmonic bone maturation, respiratory compromise secondary to upper airway obstruction, short stature, and kyphoscoliosis. Facial features are characteristic with high forehead, underdeveloped midface, proptosis, anteverted nares, and everted lips. Minor abnormalities of brain morphology such as hypoplasia of the corpus callosum are common. Mortality from respiratory complications is high, but airway support increasingly allows survival into adulthood. Array-CGH was performed on 12 of the cohort and no copy number variants of clear clinical relevance were identified. The present study is the first reported use of an online wiki to aid delineation of a genetic syndrome, and illustrates its value in collecting detailed data in rare conditions.© 2010 Wiley-Liss, Inc. PMID: 20949508 [PubMed - indexed for MEDLINE]

International audience; By using a combination of array comparative genomic hybridization and a candidate gene approach, we identified nuclear factor I/X (NFIX) deletions or nonsense mutation in three sporadic cases of a Sotos-like overgrowth syndrome with advanced bone age, macrocephaly, developmental delay, scoliosis, and unusual facies. Unlike the aforementioned human syndrome, Nfix-deficient mice are unable to gain weight and die in the first 3 postnatal weeks, while they also present with a spinal deformation and decreased bone mineralization. These features prompted us to consider NFIX as a candidate gene for Marshall-Smith syndrome (MSS), a severe malformation syndrome characterized by failure to thrive, respiratory insufficiency, accelerated osseous maturation, kyphoscoliosis, osteopenia, and unusual facies. Distinct frameshift and splice NFIX mutations that escaped nonsense-mediated mRNA decay (NMD) were identified in nine MSS subjects. NFIX belongs to the Nuclear factor one (NFI) family of transcription factors, but its specific function is presently unknown. We demonstrate that NFIX is normally expressed prenatally during human brain development and skeletogenesis. These findings demonstrate that allelic NFIX mutations trigger distinct phenotypes, depending specifically on their impact on NMD.

Marshall-Smith syndrome is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. Less than 40 cases have been reported in the literature, mostly as single case reports or small series. We describe a female newborn who, in addition to demonstrating many of the well described features of Marshall-Smith syndrome, had septo-optic dysplasia.

Altogether 156 children treated for Wilms' tumour (WT) between 1970 and 1998 were studied. Sixty-six children, selected only by their attendance at clinic, were carefully examined and the findings compared to those from a case note review of 90 children. Congenital abnormalities were present in 45% of the examined cohort, in 19% of the case notes review group and in 30% overall. Novel findings included the association of WT with Marshall Smith syndrome, developmental delay in 3 of 4 cases of WT (one bilateral) and 1 sibling from consanguineous Pakistani families and another sibling also had leukaemia. The possibility of rare DNA repair or cancer predisposing disorders among these 4 families requires further study. Careful examination and history taking of an unselected patient cohort revealed a higher than expected incidence of clinical abnormalities which may be overlooked if not specifically sought.

A 7-year-old girl presented with classic signs of typical Marshall-Smith syndrome, a rare early overgrowth syndrome. Her long-term survival, which is extremely uncommon in such patients, can be attributed to the successful securing and maintenance of an airway. Continued follow-up is extremely important in finding out how to ensure long-term survival of such patients.

The Marshall-Smith Syndrome (MSS) is a rare disease characterized by orofacial dysmorphism, failure to thrive, accelerated osseous maturation and mental retardation. It has anaesthetic implications due to upper airway problems and possible atlanto-axial instability. We present the perioperative problems (difficult intubation, airway obstruction) encountered in a child with MSS who underwent several anaesthetics during his first two years of life.At birth, the child presented with asphyxia due to obstructive apnoea. His trachea was, therefore, intubated immediately. The morphological diagnosis of MSS was confirmed by the pathognomonic radiological appearance of the bones (bone age was eight months at the age of four days). Upper airway difficulty was caused by functional problems at the level of the hypopharynx (inspiratory collapse at the level of the velum palatinum), and was solved by the use of a nasopharyngeal airway (NPA) during the induction of anaesthesia and early postoperative period.The use of an NPA during both induction and recovery of anaesthesia may be particularly useful to prevent upper airway problems in children with MSS.

We report a child of 3 years 9 months with the Marshall-Smith syndrome (MSS), characterised by the typical facial features, developmental delay, and advanced bone age. After the diagnosis was made at 5 months of age, careful observation for respiratory complications and failure to thrive was initiated. By 3 1/2 years of age, although our patient had no life threatening respiratory complications, investigation showed significant upper airway obstruction, which has been successfully treated. Aggressive treatment for failure to thrive has also allowed her to maintain a weight on the 50th centile. The purpose of this report is to suggest that early diagnosis and aggressive management may improve the ultimate prognosis with respect to the respiratory and feeding difficulties seen in this rare syndrome.

Marshall-Smith syndrome is characterized by accelerated osseous maturation, craniofacial anomalies, failure to thrive, psychomotor delay, hypotonia, pulmonary dysfunction, and limited life expectancy. We describe a 7-year-old girl who, in addition to meeting these criteria for Marshall-Smith syndrome, had multiple fractures and skeletal anomalies. The purpose of this report is to draw attention to Marshall-Smith syndrome as one of the skeletal dysplasias characterized by osseous fragility.

The Marshall-Smith syndrome is characterised by overgrowth, accelerated skeletal maturation, and dysmorphic facial features, often associated with mental retardation of variable degree. Most of the reported patients died in the first three years of life mainly because of respiratory problems. We describe a 5 year old patient with this rare syndrome, who has optic atrophy and agenesis of the corpus callosum, but has no respiratory problems so far. This observation underlines the clinical variability of the Marshall-Smith syndrome and indicates that life expectancy may be prolonged.

The Marshall Smith Syndrome (MSS) is a rare congenital disorder, displaying a constellation of unique symptoms, including orofacial dysmorphisms, accelerated osseous maturation and dysplasias, mental retardation, and respiratory maladies. Few individuals with MSS survive past early childhood. In this case report, we describe a unique treatment for a 30 year-old patient with MSS who presented to our pain medicine clinic for management of pain secondary to uncontrolled bilateral hip dysplasias.

Radiographic, clinical, and histologic findings in two infants and a neonate with a syndrome of profoundly accelerated skeletal maturation included features closely resembling those of Marshall-Smith (MS) syndrome, but patients had dysmorphic ears as well as distinctive generalized skeletal abnormalities suggestive of a bone dysplasia. Among these was an instability at the craniocervical junction with severe spinal stenosis. These previously unrecognized abnormalities may represent uncommon manifestations within the spectrum of MS syndrome or indicate the existence of a separate disorder.

✓ The case is reported of a 2-year-old boy born with Marshall-Smith syndrome who had difficulty in swallowing and who exhibited spasticity and quadriparesis due to compression of the medulla and cervical spine. This is the first child with this rare condition reported to have brain-stem compression from bone abnormalities at the craniovertebral junction and who has required surgery.

Marshall-Smith syndrome (MSS) is defined as an “overgrowth” multiple congenital anomalies syndrome that presents with advanced bone age, characteristic craniofacial anomalies, failure to thrive, respiratory difficulties, and global developmental delay. We report an 18-month-old girl who presented prenatally with asymmetric intrauterine growth retardation (IUGR) and polyhydramnios. At birth, she was hypoxic with no respiratory effort due to umbilical cord avulsion during delivery. Birth weight was 2.0 kg (10%), birth length was 45 cm (10%), and OFC was 33.5 cm (60%). She had facial features consistent with Melnick-Needles syndrome; however, filamin A gene mutation testing was negative. A tracheostomy was done at 2 weeks due to severe micrognathia. When seen at 18 months, her weight was 7.43 kg (

The Marshall-Smith syndrome is characterised by a triad of facial dysmorphism, failure to thrive and accelerated osseous maturation. We report a further case of this rare syndrome with the unusual but previously reported complication of laryngeal hypoplasia and review the associated laryngeal anomalies that have been reported to date. Conclusion Severe airway obstruction due to congenital anomalies must be excluded in any dysmorphic child presenting with respiratory distress at birth. Rapid airway assessment will enable early and appropriate intervention and may be important when deciding on the long-term plan for the infant.

We present a case of Marshall-Smith syndrome, characterized by accelerated osseous maturation, craniofacial anomalies, failure to thrive, psychomotor delay, pulmonary dysfunction, and limited life expectancy. Recently, Marshall-Smith syndrome's clinical variability is becoming apparent and the phenotype is expanding. Our case had craniofacial anomalies, including prominent eyes, external strabismus, blue sclera, flat nasal bridge, and micrognatia. Moreover, she showed extension of the hip joint, hypotonia, and arachnodactyly. She was referred to our hospital due to dysmorphic facies at 7 mo and overgrowth was noticed with a height of 74.2 cm (+2.7 SD). Radiographic surveys demonstrated accelerated osseous maturation with a bone age of 1 yr 6 mo at the chronological age of 10 mo and broad proximal phalanges. We diagnosed this case as Marshall-Smith syndrome according to clinical features and radiographic findings. Except for one episode of broncho-pulmonitis which required hospitalization, she has not had other severe infections up to date. Presently, she is 1 yr 9 mo; 88.0 cm (+2.1 SD) and 10.4 kg (-0.3 SD). This case suggests that there are patients with Marshall-Smith syndrome without life-threatening complications.

Marshall-Smith syndrome is a rare disease, with about 29 cases reported to date. It is characterized by accelerated bony growth and maturation, phalangeal abnormalities (wide middle and narrow distal phalanges), unusual facial features (prominent eyes, bluish sclerae, coarse eyebrows, an upturned nose, hypoplastic facial bones, and shallow orbits), failure to thrive, respiratory difficulties, and psychomotor retardation. This report of the radiologic findings of Marshall-Smith syndrome is, as for as we know, the first to be published in Korea.

Marshall-Smith syndrome is a rare congenital condition, characterized by advanced bone age, facial anomalies and relative failure to thrive. We report a newborn male with Marshall-Smith syndrome and summarize 21 previously reported cases. We report cerebellar hypoplasia in our patient, which has not been previously reported in subjects with this rare syndrome. This patient's findings broaden the phenotypic spectrum seen in Marshall-Smith syndrome.

The Marshall-Smith syndrome is characterized by accelerated skeletal maturation, failure to thrive and dysmorphic features. This report describes the 17th published case of this rare disorder.

A new case of the syndrome of "accelerated skeletal maturation, facial dysmorphism, failure to thrive and psychomotor retardation" is presented. The syndrome was noted in the neonatal period. The diagnosis can be readily suggested by the radiologist because ossification centers show exceptionally early maturation. This case history increases to at least five the number of cases so far reported following the initial publication by Marchall and al. in 1971. If the two cases described in 1974 by Weaver and al. (as a distinct entity) are also included then the total of cases reported rises to seven.

We have reported a case of the Marshall-Smith syndrome, a condition characterized by accelerated bone maturation, dysmorphic features, respiratory compromise, failure to thrive, neuro-developmental abnormalities, and death in early infancy. Early evaluation of upper airway obstruction in these children may be important in prolonging life. Although the prognosis has been poor to date, early recognition and aggressive multi-disciplinary therapy may permit further investigation into the cause and appropriate management of this disorder.