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Opinions on the nature and distinctiveness of the Chinese Paleolithic differ between those who assign early Late Pleistocene lithic technologies to some peculiar facies of the Middle Paleolithic, a...

The authors examine what is meant as facies in medicine. After an introduction to the word's understanding, they move on listing some dermatological conditions associated to peculiar facies in the child. Starting from atopic dermatitis, the authors develop an algorithm including Genodermatoses, Neurocutaneous Disorders, and Multiple Congenital Anomalies Syndromes. They emphasize the distinctive features of the lesions on the face and their fundamental diagnostic importance.

A 37-year-old male had clinical and electrophysiological features of hereditary motor and sensory neuropathy (neuronal type) with onset in infancy, as well as histological picture of neurogenic myopathy. Two sons, aged 2 and 3 4/12 years, showed congenital contraction deformities of feet, delayed motor development, and electrophysiological features similar to those of the father. All three also presented laryngeal abnormalities, peculiar facies, short neck, narrow shoulders and protruding chest. The authors conclude that this aggregate of anomalies constitutes a "new" syndrome probably due to an autosomal dominant gene.

We report a mother and son who have a microcephaly with a characteristic dysmorphic face. Prominent manifestations include facial asymmetry, prominent glabella, deafness, low-set, cup-shaped ears, thick, protruding lower lip, micrognathia, and mental retardation. We conclude that these patients have a previously undescribed type of genetic microcephaly. The mother has become normocephalic and we would not have been able to diagnose her condition without her childhood photographs. Such photographs are essential in the recognition of familial syndromes.

The authors report four unrelated girls presenting mild mental deficiency and a distinct malformation syndrome, mainly consisting of short stature, macrocranium, peculiar facies with prominent forehead, hypertelorism and exophthalmos, cardiac anomalies and cutis laxa with characteristic wrinkled palms and soles, typical ribs, small vertebral bodies and slender long bones. All were sporadic cases of non-consanguineous parents of advanced age at their births, suggesting a de novo autosomal dominant mutation.

A newborn infant with a peculiar facies, micrognathia, bifid xiphoid, hyperextensibility of the fingers, inguinal hernia, cryptorchidism, omphalocele and a 46, XY, t(3q…14q +)mal karyotype is described. The causal relationship between the karyotypic and phenotypic findings is discussed and is not considered to he related toaneusomie de recombinaison.

We studied four sibs, two males and two females, who presented psychomotor retardation, typical flat facies and some features of the Marfan phenotype such as tall stature, long and slim limbs, arm span larger than height, "arachnodactyloid" hands and feet, little subcutaneous fat and muscle hypotonia. It is concluded that the aggregate of morphoneurological anomalies constitute a new syndrome probably inherited in an autosomal recessive fashion.

Papular epidermal nevus with “skyline” basal cell layer (PENS), a variant of epidermal nevus, was recently described in otherwise normal children. We describe herein a patient with multiple, typical PENS lesions associated with peculiar facies, bilateral Achilles tendon shortening, and mild psychomotor delay. The association of PENS with extracutaneous manifestations suggests the possibility of a new type of epidermal nevus syndrome, for which we propose the term PENS syndrome.

SUMMARY The Russell-Silver's dwarf is a symptom complex made up of shortness of stature, small size for gestation age, variation in sexual development, asymmetry, peculiar facies, cafe-au lait spots, clinodactyly and syndactyly. Pseudohydrocephalus may be a prominent feature. Knowledge of the syndrome will prevent useless pneumoencephalography.

Kabuki make-up syndrome is a rare disorder characterized by mental retardation, postnatal dwarfism and peculiar facies. This condition is believed to be common in Japan, but has been reported from other parts of the world. The authors report a case of this syndrome in an eight-year-old girl, with the characteristic findings from India.

Summary Alagille syndrome is an embryofoetopathy, due to mutations in the gene JAG1 . It is autosomic dominant with variable expressivity, or sporadic. Neonatal cholestasis is a main feature, due to the paucity of intrahepatic bile ducts. It can rarely develop into cirrhosis, but be responsible for a disabling pruritus and xanthomas. The other features are a peculiar facies, cardiac abnormalities, butterfly vertebrae, and ocular embryotoxon. The prognosis depends on the severity of the liver and heart diseases. Hepatocarcinoma has been reported.

Kabuki syndrome or Kabuki makeup syndrome was first described in 1981 in Japan by two different groups of authors. These investigators described a group of patients sharing typical facial features, skeletal anomalies, mental retardation, short stature, and dermatoglyphic anomalies. The term Kabuki makeup syndrome was coined because the peculiar facial features of the patients were reminiscent of the Japanese Kabuki theater masks. In 1988, Niikawa et al, after studying 62 patients, proposed five diagnostic criteria for this disease: peculiar facies (in 100% of all patients), skeletal anomalies (92%), dermatoglyphic anomalies (93%), medium to moderate mental retardation (92%), and short stature (83% of all cases). In addition to these findings, a variety of anomalies have been associated with this syndrome - the most serious being cardiac, renal, and urogenital abnormalities. We present a case of Kabuki syndrome in a 6-year-old boy who, in addition to the various features typical of the disease, also exhibited a Becker nevus - a condition not previously associated with this syndrome. The usefulness of dermoscopy in studying alterations in the dermatoglyphic patterns is also discussed.

Rubinstein-Taybi syndrome is characterized by the presence of a peculiar facies, mental retardation, and broad thumbs and great toes. Several associated cutaneous abnormalities have been reported with this syndrome. Ulerythema ophryogenes is a form of follicular keratosis associated occasionally with other ectodermal defects and congenital anomalies. We describe a 9-year-old child with Rubinstein-Taybi syndrome and ulerythema ophryogenes. This association has not been described previously to our knowledge.

Three sisters with congenital glaucoma, peculiar facies and mild skeletal anomalies are described. It is concluded that such an aggregate of anomalies probably corresponds to a 'new' autosomal recessive syndrome.

Polymalformative syndromes are always a clinical challenge for their complexity and sometimes for their rarity. Authors present the case of a girl with peculiar facies, macrocephaly, axial hypotonia, and severe development delay. Cerebral magnetic resonance showed polymicrogyria. Cytogenetics revealed a 46,XX,der(1)(qter--p36.13::q42.3--qter) karyotype. This is the third case described to date. Isolated partial deletions or trisomy, although rare, are more frequently reported. None of these genetic findings has ever been related with polymicrogyria. Molecular cytogenetic characterization was in this case of great value.

Syndromic paucity of bile ducts or “Alagille syndrome” is characterized by peculiar facies, chronic cholestasis, posterior embryotoxon, butterfly-like vertebral arch defects and peripheral pulmonary artery hypopiasia or stenosis. We present a two-year-old female child with the ‘partial’ or ‘incomplete’ Alagille syndrome. The child had three of the five major features of the syndrome. A brief review of literature of the syndrome is presented.

We describe an 8-year-old boy with Rubinstein-Taybi syndrome, a multiple congenital anomaly/mental retardation syndrome characterized by broad thumbs and great toes, peculiar facies, and mental retardation caused by mutations in the transcriptional coactivator CREB binding protein (CBP). He had on his right side yellowish papular lesions organized in narrow bands according to Blaschko lines, later confirmed by histology as an epidermal nevus. Epidermal nevus syndrome has been ruled out because the patient failed to meet the criteria for inclusion under this designation. This association may be coincidental.

A female child with peculiar facies, obesity, cleft lip and palate, growth hormone deficiency and mental retardation is described. The present case does not appear to fit any of the known syndromes.

Setleis bitemporal "forceps marks" syndrome is characterized by "forceps marks" and a peculiar facies. The syndrome has previously been reported mainly in the Puerto Rican population. We describe here a Japanese boy with the syndrome. In addition, the hypothesis is presented that the Setleis syndrome may result from an insufficient migration of neural crest cells into the frontonasal process and the first branchial arch.

INTRODUCTION AND CLINICAL CASES The Pitt Rogers Danks syndrome is characterized by prenatal and postnatal retardation of growth, mental retardation, microcephaly, convulsions and a peculiar facies. It is believed to represent a clinical variant of the Wolf Hirschhorn syndrome, since there is a deletion in the 4p16.3 region in both syndromes. We report two cases in the same family caused by maternal mal segregation of a 4:8 balanced translocation. We describe the clinical characteristics, investigations done and a review of the literature.

An infant with peculiar facies, coloboma of both eyes, and developmental retardation was found to have d de novo interstitial deletion of the secondary constriction and some adjacent euchromatin on one of her No. 9 chromosomes, del(9)(q11q21). Since studies on duplications, variants, and the molecular composition of the secondary constriction suggest that it contributes little if any information necessary to normal development, deletion of the euchromatin alone is most probably responsible for the clinical findings.

Autosomal recessive microcephaly is usually associated with moderate to severe mental retardation. An apparently new autosomal recessive disorder comprising a characteristic facial appearance associated with microcephaly and normal intelligence, immunodeficiency, and increased risk for lymphoreticular malignancies has been described recently. We report on a large Arab kindred with frequent consanguineous marriages and eight cases in five sibships with microcephaly, peculiar facies, and normal intelligence. Of these cases, two died of an acute lymphoreticular malignancy or bronchopneumonia. Immunological and chromosomal studies carried out for the three affected living sibs were normal. The existence of an autosomal recessive nonsyndromal variant of microcephaly with normal intelligence is proposed and discussed.

In a 15 year old boy with the hypercalcemia syndrome and severe supravalvular aortic stenosis, aneurysms of the ascending aorta and the aortic arch not present at the first catheterization 8 years earlier $$Word$$ were found.This unusual complication is probably caused by the general vascular deficiency seen in this syndrome.Stenosis and aneurysms were successfully repaired by a teflon prosthesis replacing the ascending aorta and the aortic arch.

Three newborns with thin ribs and thin long bones with multiple fractures are reported. Whereas one patient presents a syndromic association of bone dysplasia and intrauterine dwarfism two other patients cannot be appropriately evaluated due to lack of basic clinical and pathologic data.

Oberiter, V., Kadrnka Lovrenc'i, M., Schmutzer, Lj. and Kraus, O. (Department of Paediatrics and Department of Urology, Dr. Mladen Stojanovi University Hospital, Zagreb, Yugoslavia). The Aarskog syndrome. Acta Paediatr Scand, 69: 567, 1980.—The Aarskog syndrome is characterized by short stature, peculiar facies, shawl scrotum, cryptorchism, broad, short hands and hyperextensibility of the proximal interphalangeal joints. A boy with typical features of the Aarskog syndrome is presented. The proband's mother, sister and grandmother were short and strongly resembled him. Palmar dermatoglyphics showed the presence of whorls in the interdigital areas of the affected mother and son and the absence of this pattern on the palms of the sister.

A confirmed case of kinky hair disease is described. Findings include a defect in copper metabolism, peculiar facies, retrognathia, skeletal open-bite, generalized gingival enlargement, and skeletal radiographic abnormalities.

The roentgen experience with 27 patients with supravalvar aortic stenosis (SVAS) who had both cardiac catheterization and cinecardioangiography is presented.Gross and microscopic pathologic features of SVAS in previously reported cases are reviewed. Observations at the time of surgery in 11 cases of this series are detailed.A classification of SVAS and postvalvar pulmonary artery stenosis (PPAS) is suggested based on the cardioangiographic findings in these 27 cases. One form of SVAS (Type II), heretofore not emphasized, is a complex anomaly with mild to moderate supravalvar narrowing just above shallow sinuses of Valsalva, small aortic valve annulus, and thick semirigid valve cusps with unfused commissures.Conditions with which SVAS is associated are briefly discussed. These conditions include: the syndrome of SVAS, mental retardation and peculiar facies, idiopathic infantile hypercalcemia, familial SVAS with normal intellect, sporadic SVAS with normal intellect, and Marfan's syndrome.The basic clinical ...

A case report of a man with a characteristic facial abnormality, polydactylism of all four extremities, duplication of tarsal and carpal bones, and fibular dimelia is reporter with similar but more pronounced bone duplication in his daughter.

Gold and silver have been detected not only in the peculiar facies of the granite occurring on Bittleford Down, but also in the normal grey biotite-granite of numerous tor- and quarry-localities; several hand-specimens of granite showing minute flakes of visible gold have been collected.The modes of occurrence of gold on Dartmoor, the environment of the granite from which specimens showing visible gold have been taken, and the gold-silver content of the granite generally have been investigated in some detail, with the results described below.

The Rubinstein-Taybi syndrome of men tal retardation, broad thumbs and great toes, delayed linear growth, peculiar facies and other malformations is here described. The authors hypothesize that this newly de scribed syndrome and that of Smith-Lemli- Opitz represent the same genetic abnor mality.

Supravalvular aortic stenosis has been recognized as a distinct nonfamilial syndrome associated with peculiar facies and mental retardation (SVAS syndrome). It has also been described as a sporadic or familial lesion associated with normal somatic features and normal intelligence. Clinical and experimental data have implicated infantile hypercalcemia in the etiology of the SVAS syndrome. It had been suggested previously that the separation of SVAS into three distinct clinical forms was not absolute. The present report is concerned with a family in which five of nine siblings were found to have SVAS associated with somatic features typical of the SVAS syndrome but with normal intelligence. Chromosome studies were negative.

Supravalvular aortic stenosis in adults, in contrast to the form seen in infants and children, is usually not associated with mental retardation, peculiar facies or severe peripheral pulmonic stenosis. Subtle clinical findings serve to distinguish it from valvular aortic stenosis, a differentiation of great importance if surgery is a consideration. Diagnosis is made by aortic and left ventricular angiograms. The severity of the clinical disease correlates better with abnormalities of the coronary arteries than with the severity of the obstruction, although both are frequently significant. Once symptoms occur, the prognosis is poor without surgical correction. Surgical mortality rates are high, primarily as a result of incomplete preoperative diagnosis.

An 11-month-old boy is described with severe developmental retardation, colobomata of both eyes, peculiar facies, syndactylies of the fingers and multiple minor malformations. Lymphocyte cultures showed the karyotype 48, XXYY, whereas, a skin fibroblast culture gave a mixture of diploid and triploid cells with the karyotypes 48, XXYY and 71,XXXYY respectively. In the triploid cell line only one of the three X chromosomes is allocyclic, as demonstrated by H3-TdR labeling and by sex chromatin studies.

The acrocallosal syndrome is characterized by peculiar facies, polydactyly of the hands and/or feet, and agenesis of the corpus callosum. Two unrelated 4-month-old boys with consanguineous parents are reported. Both exhibited the main features of the syndrome, but neither of them had partial reduplication of halluces. Consequently, pre-axial polydactyly of the feet is not considered to be a constant feature of the acrocallosal syndrome. The similarity of the acrocallosal syndrome to Greig syndrome is discussed, but it appears unlikely that the two syndromes are identical. Consanguinity in both cases is a strong argument in favour of a recessive mode of inheritance.

Tay, C. H., Rajagopalan, K., McEvoy-Bowe, E., Tock, E. P. C. and Da Costa, J. L. (Departments of Medicine, Biochemistry and Pathology, University of Singapore, Singapore, and the Skin Clinic, General Hospital, Johore Bahru, West Malaysia). A recessive disorder with growth and mental retardation, peculiar facies, abnormal pigmentation, hepatic cirrhosis and aminoaciduria. Acta Paediatr Scand, 63: 777, 1974.—Two Indian teenage sisters from West Malaysia were recently found to have a previously undescribed syndrome consisting of (1) growth retardation and hypogonad-ism, (2) mental deficiency, (3) peculiar fades consisting of microcephely, triangular shaped face, prominent eyes, hypoplastic alae nasi, small ‘pinched’ nose., tiny mouth and large, pegged-shaped incisors, (4) abnormal pigmentations such as cafaau-lait spots, multiple lentigines, peripheral vitiligo and premature canities, (5) abnormal limbs consisting of trident hands, hypoplastic transverse palmar creases, large big toes and short, stubbed small toes, (6) liver involvement with fatty infiltration and hepatic cirrhosis with hypersplenism, (7) raised serum globulins and serum immunoglobulins, and (8) hyperaminoaciduria mainly of taurine, β-aminoisobutyric acid and glycine. This syndrome is probably due to a recessive autosomal trait. The relationship of this to other similar conditions, especially the ‘Bird-Headed Dwarfism’ is briefly discussed.

The case of a 4-month-old male with de novo partial trisomy for chromosome 14 involving the p13 leads to q24 portion is reported. He presented with growth and psychomotor retardation, peculiar facies due to nose-mouth anomalies, monolateral microphtalmia, high arched palate, and anomalies of hands and feet. These symptoms are found also in the other 8 cases of partial trisomy 14 reported in the literature. This confirms a characteristic chromosomal syndrome although the breaking points on the extra chromosome 14 are not the same in the 9 cases. The clinical picture of our case calls for careful investigations of the chronology of bone age and of the immunologic situation in further cases of total and partial trisomy 14.

SUMMARY Radiographic changes in four cases of Larsen's syndrome have been described. This is a rare syndrome characterised by multiple bilateral joint dislocations, positional deformities of the feet and hands, finger abnormalities, scoliosis and peculiar facies. The disease should be recognised on the basis of clinical findings. The radiographic examination is highly diagnostic.

RESUMEN Se presenta el estudio genetico de una familiacon signos intermedios entre los propios del sin-drome de Rubinstein y el sindrome de Robinow,Su linea genetica permite calijicarla como una he-rencia de tipo dominante de manifestation irregu-lar o penetration variable a traves de tres genera-ciones por linea materna. Se piensa que constituyeun sindrome diferente a los dos mencionados.SUMMARY A genetic study of a family with intermedial signsof both Rubinstein and Robinow's Sindrome is presen-ted. Its genetic line allows to qualify it as an inheritanceof dominant type of irregular manifestation or variablepenetration along three generations by the mother's line.The signology suggests a different Sindrome in relationwith the other two. BlBLIOGRAFIA - Goudeau N. Sindrome de Rubinstein y Taybi. Rev.Chil. Ped. 41: 446-449. Junio 1970.2.— Macera R. Braquidactilia e hiperfalangia heredi-tarias asociadas probablemente con artrosis secun-darias en otras regiones del esqueleto. Bol, Soc.Chil. Reumat. 8: 44-46 Sept-70.3.— Arkless R. An unusual case of brachydactyly. Peri-pheral dysostosis? Pseudo-pseudo-hypoparathyroi-dism? Cone epiphyses? Amer. J. Roentgen. 99: 724-35. Mar. 1967.4.— Coffin G. S. Brachydactyly peculiar facies and men-tal retardation. Amer. J. Dis. Child. 108: 351-9Oct. 1964.5.— Ernyei S. Craniofacial dysplasia associated withcongenital cataract, impairment of hearing andbrachydactyly. Amer. J. Ophthal 62: 697-702. Oct.1966.6.—Kitshnick T. Brachydactyly, facial amnormalitiesand mental retardation. Rubisntein-Taybi syndrome.Amer. J. Dis Child 111: 96-98, 1966.7.— Levy Leblond E. The Rubinstein Taybi syndrome.Arch Franc. Ped. 25: 523-535. 1969-Excerp-Med.22-v 7-1969.8.— Petrocini 6. Sindrome di Ri.binstein-Taybi. MinervaPediat. 21: 674-632, 1969.9,— Penrose L. S. Note en dermatoglyphic data in abrachydactylous family. Ann Hum Genet. 29: 383-8 May, 1966.10.— Robinson G. C. Hereditary brachidaclyly and hipdisease. Unusual radiological and dermatoglyphicfindings in a kindred. J. Pediat. 72: 539-43 Apr.1968.II,—Roy f. H. Ocular manifestations of the Rubinstein-Taybi syndrome Arch Ophthal 79:272-278,1968.12.— Rubinstein J. Taybi H. Broad thumbs and toesand facial anomalies. Amer. J. Dis. Child. 105: 588-608, 1963.13.— Sinnette C. Rubinstein-Taybi syndrome. The firstcase in an African child. Clin Pediat. (Phila) 7:488-92 Aug-1968.14.— Wilson M. G. Rubinstein-Taybi and D

Identical twins with the Prader-Willi syndrome are reported. Apart from hypogonadism, hypomentia, hypotonia and obesity, they presented shorter than normal stature and the peculiar facies of this syndrome. Both twins also suffered from arterial hypertension with secondary hyperaldosteronism, an abnormality never previously recorded. The endocrinological study showed the presence of hypogonadotropic hypogonadism in both twins. The GnRH and clomiphene tests suggested a hypothalamic disorder. Although the vast majority of cases with the Prader-Willi syndrome are isolated, the expression of this disorder in two identical twins enhances the possibility of a genetic determination.

A typical case of camptomelic dwarfism exhibits the characteristic clinical features of: rhizomelic dwarfism, anterior bowing of the tibia with cutaneous dimpling, talipes equinovarus, peculiar facies with micrognathia and characteristically death in the first 6 weeks of life.

• An infant previously reported to have psychomotor retardation and multiple congenital anomalies including hypotonia, failure to thrive, peculiar facies, low-set ears, micrognathia, and cryptorchidism in association with monosomy due to a D/E (13-15/17-18) translocation has been reexamined. Further cytogenetic studies, using fluorescent techniques, indicate the translocation involves chromosomes 15 and 17. Only two other patients with partial monosomy due to grossly similar D/E translocations have been reported. On reexamination, the translocation in one has recently been found to involve chromosomes 15 and 18 and that in the other has not been further defined. ( Am J Dis Child 129:959-961, 1975)

Two siblings with peculiar facies, deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation were reported. The similarity of both the dysmorphic features and the clinical course suggests a new syndrome, which inheritance is considered to be autosomal recessive.

Two sibs of a consanguineous mating are described. Both have a gross costovertebral segmentation defect affecting nearly all the thoracic vertebrae, and mesomelia of the limbs, with the upper limbs being obviously more affected than the lower. The facial appearances of the two are identical, with hypertelorism, depressed nasal bridge, large bony upper lip, constantly open mouth, and peg-like teeth. We believe this combination has not been described before and represents the effect of a 'new' recessive gene. We would like to name this combination Covesdem syndrome (costovertebral segmentation defect with mesomelia).

A 3 1/2-year-old boy was referred for chromosomal evaluation because of mental and developmental retardation, peculiar facies, and abnormalities of the extremities. Karyotype analysis disclosed the presence of 46 and 47 chromosome cell lines. The 46 chromosome line contained 4 normal G group chromosomes and an abnormally small Y identified by G banding. Further investigation with Q and C band techniques revealed that the missing segment of the Y, the distal long arm, had been translocated to the end of the long arm of a number 6 chromosome. This de novo rearrangement appeared to be balanced and was found in all cells examined. The 47 chromosome line, which had a frequency of 10% in the patient's leucocytes, was identical to the 46 line except for the presence of an additional copy of the small chromosome. The morphology and banding patterns of the two small acrocentrics in the aneuploid line were found to correspond to those of the der (derivative) Y in the euploid line. The cytogenetic findings suggest that the translocation was followed by non-disjunction of one of its products resulting in mosaicism. Possible causes for the clinical and karyotypic abnormalities are discussed.

Two 46,XY phenotypic female siblings, aged 1 1/2 and 8 1/2 years, have peculiar facies, cardiac, renal, musculoskeletal, and ectodermal anomalies, short stature, streak gonads, and mild developmental delay. Previous reported cases of 46,XY gonadal dysgenesis have not had major associated malformations. These children present a new constellation of anomalies unlike those seen in other types of gonadal dysgenesis and represent a new familial syndrome of 46,XY gonadal dysgenesis.

A Mexican-American family in which two half brothers and their two maternal uncles are affected with the facial-digital-genital (Aarskog) syndrome is described. This syndrome is characterized by short stature, peculiar facies, abnormalities of the hands and feet, and a saddle anomaly of the scrotum. An obligate heterozygote in this kindred was found to have the hand and foot anomalies characteristic of the affected members of her family. This syndrome appears to be inherited as an autosomal dominant trait with partial expression in women.

A little-known syndrome has been observed in recent years in six white children from scattered localities and unrelated families. The children are small in size and backward in mental development: they have characteristic facies, lax muscles and joints, abnormally wide thumbs and first toes, and a variety of other anomalies. Recently, Rubinstein and Taybi 1 have described several cases of the same syndrome. Since our patients resemble theirs in many details, a presentation of our clinical findings should help to gain wider recognition of Rubinstein's syndrome, and may add certain features, especially the frequent presence of congenital heart disease. An additional reason for calling attention to this syndrome is the fact that all of our patients were visibly abnormal at birth: physicians who encounter these neonates can begin to plan for the ensuing retardation of development. Each patient was studied fully. The history emphasized questions regarding illnesses and injuries in

Summary Two cases of tricho-rhino-phalangeal syndrome are described. This syndrome is one of the well differentiated diseases in the subgroup of peripheral dysostoses. Our cases conform with the condition as reported by Klingmueller and Giedion. The features which help to identify this entity are (I) peculiar facies (2) sparse hair (3) hand and feet deformities (4) usually some shortening of stature. Two additional clinical findings are stressed–bat ears and mental retardation. The importance of radiographic differentiation from other diseases with peripheral ossification disturbances and peripheral dysostoses syndromes, and specifically Thiemann's disease, is stressed.