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3-hydroxy isobutyl-CoA hydrolase (HIBCH) deficiency is a recently described, rare inborn error of valine metabolism associated with a Leigh syndrome-like phenotype, neurodegenerative symptoms, and caused by recessive mutations in the HIBCH gene. We report the most severe case to date of an intrauterine growth-restricted term male who presented with severe acidosis and a high anion gap soon after birth. The manifestation was fatal that led to death within 36 hours of life. The diagnosis was made postnatally by Whole Genome Sequencing (WGS). We report a rapid and fatal event of HIBCN in a neonate and review of the literature., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2024 Surasak Puvabanditsin et al.)

Background: The legal implications associated with illicit drug use during pregnancy are significant, as providers are required to notify child protective services when a drug-exposed infant is identified., Case Report: The case presented involves possible specimen mishandling in two infants at risk for in utero drug exposure and describes alternative methodologies available to confirm specimen identity., Conclusions: It is critical that institutions establish and adhere to stringent procedures when screening newborns., (Copyright © 2020 Elsevier B.V. All rights reserved.)

We report a preterm male neonate presenting with a lumbosacral meningomyelocele, type II Arnold Chiari malformation, hypoplasia of the aortic arch, bicuspid aortic valve, ventricular septal defect, secundum atrial septal defect, multicystic dysplastic kidney, and hydronephrosis. Analysis with whole genome SNP microarray revealed an interstitial deletion of about 237 kb in chromosome 6q26. Long contiguous stretches of homozygosity (>3 Mb) were seen in 18 chromosomes with a total genomic size of 219 Mb. The phenotype seen in our patient has not been reported in association with the genes in the homozygous regions. However, our patient shares many phenotypic features with other reported cases that have shown a deletion in the same region of chromosome 6., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2019 by S. Karger AG, Basel.)

We report a term male infant with congenital stridor secondary to tracheomalacia and a mild coarctation of the aorta. Developmental delay was noted upon follow-up. Whole genome SNP microarray analysis showed an ∼846-kb interstitial duplication of the short arm of chromosome 8 (8p11.21p11.1). We report novel clinical findings of this rare genetic condition.

Objective: The aim of this article is to publish a literature review and report on a new case of cleidocranial dysplasia syndrome with 6p21.1-p12.3 microdeletion., Design: A PubMed search using "cleidocranial dysplasia syndrome (CCD)" or "6p microdeletion" was performed. Articles with information relevant to our case were obtained for review. A new case of cleidocranial dysplasia syndrome is presented to describe and discuss clinical manifestations, pathogenesis, clinical progression of cleidocranial dysplasia syndrome, and management., Results: There were 22 articles with reports of cleidocranial dysplasia syndrome or 6p microdeletion. Cleidocranial dysplasia syndrome, a rare genetic disorder, documented to have an autosomal dominant inheritance pattern and caused by caused by mutations of the transcription factor RUNX2. RUNX2 has been mapped to chromosome 6p21. The anomalies in cleidocranial dysplasia syndrome can involve not only the clavicle and skull but the entire skeleton because the membranous as well as endochondral bone formation may be affected. Upon follow-up, our patient was found to have global developmental delay., Conclusions: We report a near-term neonate with characteristic features of cleidocranial dysplasia and a 6p21.1-p12.3 microdeletion. Cleidocranial dysplasia syndrome is a rare autosomal dominant skeletal dysplasia. The mutation of the RUNX2 gene results in cleidocranial dysplasia syndrome.

Background: Green-stained amniotic fluid does not always indicate that meconium was passed in utero., Case Presentation: We report the case of a 2280-g Hispanic preterm female born at 32 weeks of gestation with congenital jejunal atresia. The amniotic fluid was greenish stained; the initial impression was meconium-stained amniotic fluid. Postnatal findings revealed no meconium in her rectum. The content of her first stool appeared sticky and white., Conclusion: In the absence of meconium in the rectum, the pediatrician should consider the possibility that the greenish amniotic fluid is not meconium stained, but rather stained with bile due to the fetus vomiting in utero secondary to intestinal obstruction.

We report an extremely low-birth-weight neonate who developed umbilical artery perforation and false tracking. There was no life-threatening event relating to the complication. Diagnosis was made at postmortem examination. Little information exists regarding the anatomic and vascular effects of umbilical artery catheterization placement in newborns. We report a new complication of umbilical artery catheterization. We raise the awareness regarding the potential life threat due to this rare but very serious complication.

The oculoauriculovertebral spectrum or Goldenhar syndrome is characterized by varying degrees of prevalently unilateral underdevelopment of the craniofacial structures (orbit, ear, and mandible) in association with vertebral, cardiac, renal, and central nervous system defects. We report on a term neonate with a partial monosomy 7q21.11 with marked hemifacial microsomia, facial clefting, and spinal anomaly. The estimated size of the monosomic region of 7q21.11 was approximately 55 kilobases. This is the first report of a patient with partial monosomy 7q21.11 associated with oculoauriculovertebral spectrum.

We report on a term first born dichorionic-diamniotic twin with deletion of the distal long arm of chromosome 13, partial trisomy of the short arm of chromosome 4, intrauterine growth retardation, and multiple anomalies including microcephaly, colpocephaly, absent corpus callosum, bulbous tip of the nose, large and low set ears, macroglossia, thin upper lip, double outlet right ventricle, atria/ventricular septal defect, cleft mitral valve, pulmonary stenosis, single umbilical artery, multicystic dysplastic left kidney, sacral dimple, anterior displacement of anus, simian creases, abnormal thumb (congenital clasped thumb), overlapping toes, and congenital hypothyroidism. This is the first report of a patient with partial trisomy 4p and partial monosomy 13q.

We report a term female neonate with vertebral anomalies, anal and urethral atresia, esophageal atresia with tracheoesophageal fistula (TEF), renal agenesis, pulmonary hypoplasia, genital and sacral appendages, and a single umbilical artery. Genetic studies revealed a 20.91 Mb interstitial deletion of the long arm of X chromosome: Xq25-q27.3. This is a new case of VATER/VACTERL association with Xq25 microdeletion.

Osteocraniosplenic syndrome-hypomineralized skull with gracile long bones and splenic hypoplasia: a case report and literature review: We report herein an intrauterine growth-restricted preterm nwonate with a lethal bone dysplasia characterized by severe hypomineralization of the skull, absent medullary lucency flared metaphyses fishbone-like diaphysis and overtubulated long vones. Dysmorphic features included flat facies, bulging forehead, vevus flammeus, depressed nasas bridge, short philtrum, inverted U-shape mouth, mild micrometic dwarfism, and brachydactyly. The infant's lungs and spleen were hypoplastic. The findings are compatible with the 19 previously reported cases that used different terminology: osteocraniostenosis, gracile bone disorders and osteocraniosplenic syndrome. We present the clinical, pathological and cytogenetic findings of this rare disorder.

Duplication 17pll.2 syndrome is a recent recognized syndrome with multiple congenital anomalies and mental retardation. Most patients with duplication 17p11.2 syndrome harbor a common 3.7 Mb duplication (17p.11.2 duplication syndrome) resulting in congenital anomalies, neurodevelopmental and behavioral phenotypes. We report a case with spina bifida, tetralogy of Fallot and a small duplication (932 Kb) of 17pl1.2 containing approximately 20 genes, detected by array-CGH. We describe clinical features not reported previously for microduplication of 17p11.2.

A preterm neonate presenting with respiratory distress after birth was found to have a clival encephalocele, which is a variant of a basal encephalocele, and hypoplasia of the cerebellum. Genetic studies revealed a small deletion of the long arm of chromosome 5: 5q15 deletion. We report a rare variant of a basal encephalocele with a cerebellar malformation and 5q15 deletion., (© The Author(s) 2014.)

The microduplication 22q11.2 syndrome has a wide range of clinical manifestations. The phenotype ranges from normal to mental retardation and congenital anomalies. Esophageal atresia/tracheoesophageal fistula (EA/TEF) has recently been linked with the Tbx1 gene mutation located on the long arm of chromosome 22(22q11.21). We report a case with 1.4 Mb 22q11.23 duplication detected by array-CGH. The father of this infant has the same interstitial microduplication but with a normal phenotype. The phenotype seen in our case is type C (3B) esophageal atresia, tracheoesophageal fistula, and ventricular septal defect. Our patient underwent primary repair of OA/TEF malformations, which was later complicated by pneumonia and a recurrent TEF.

We report a neonate with prenatal ultrasound imaging features suggestive of CLOVES syndrome, confirmed postnatally by clinical and imaging findings of the constellation of truncal overgrowth, cutaneous capillary malformations, lymphatic and musculoskeletal anomalies. The clinical, radiological and histopathological findings noted in our patient help differentiate from other overgrowth syndromes such as Proteus syndrome. We report perinatal findings and add new clinical findings of this rare syndrome.

We report on a preterm male newborn with complete ectopia cordis associated with Cantrell's syndrome. The neonate had an ectopia cordis involving defects of the lower sternum, supraumbilical abdominal wall, anterior portion of the diaphragm, and diaphragmatic portion of the pericardium associated with complex congenital heart defects. The infant died shortly after birth. We discuss this case and review the literature.

We report on a preterm neonate with a deletion of the distal short arm of chromosome 5p15.33 and partial trisomy of the distal short arm of chromosome 3p24.3. The patient was the first-born monozygotic twin. There were no pertinent facial or physical features except a small lower lip hemangioma. The neonate presented with cardiac defects, which included a patent ductus arteriosus, an atrial septal defect and ventricular septal defects. After 94 days of age, however, the patient died from superior vena cava syndrome, recurrent chylothoraces and generalized anasarca. Array comparative genomic hybridization (aCGH) using a custom oligonucleotide microarray (Agilent 180,000 probe platform revealed a terminal duplication of 1,128 oligonucleotide probes from 3pter to 3p24.3, spanning approximately 20.4 megabases (Mb), and a terminal deletion of 271 oligonucleotide probes from 5pter to 5p15.33, spanning approximately 4.3 Mb. This is the first report of a patient with partial trisomy 3p24.3 and partial monosomy 5p15.33 without major dysmorphic features.

We report a female infant who presented with a tail appendage bearing a gelatinous tip and an associated lipomyelocele. Magnetic resonance images revealed the presence of spina bifida and a tract in continuity from the tail to the conus medullaris. The tail was surgically removed. A human tail may be associated with underlying spinal dysraphism. Magnetic resonance or computed tomographic imaging is required in such cases for complete evaluation. This is the first case report of gelatinous-tip human tail.

Background: Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect is largely unknown in humans., Methods and Results: This study reports a large family in which two cousins with micro/anophthalmia each gave birth to at least one child with otocephaly, suggesting a genetic relationship between anophthalmia and otocephaly. OTX2, a known microphthalmia locus, was screened in this family and a frameshifting mutation was found. The study subsequently identified in one unrelated otocephalic patient a sporadic OTX2 mutation. Because OTX2 mutations may not be sufficient to cause otocephaly, the study assayed the potential of otx2 to modify craniofacial phenotypes in the context of known otocephaly gene suppression in vivo. It was found that otx2 can interact genetically with pgap1, prrx1, and msx1 to exacerbate mandibular and midline defects during zebrafish development. However, sequencing of these loci in the OTX2-positive families did not unearth likely pathogenic lesions, suggesting further genetic heterogeneity and complexity., Conclusion: Identification of OTX2 involvement in otocephaly/dysgnathia in humans, even if loss of function mutations at this locus does not sufficiently explain the complex anatomical defects of these patients, suggests the requirement for a second genetic hit. Consistent with this notion, trans suppression of otx2 and other developmentally related genes recapitulate aspects of the otocephaly phenotype in zebrafish. This study highlights the combined utility of genetics and functional approaches to dissect both the regulatory pathways that govern craniofacial development and the genetics of this disease group.

We report on a preterm neonate with a deletion of the distal long arm of chromosome 13q32.1 and partial trisomy of the short arm of chromosome 10p12.33. The patient has intrauterine growth retardation, microphthalmia, macrocephaly, holoprosencephaly, patent ductus arteriosus, aortic isthmus hypoplasia, right renal agenesis, imperforate anus, ambiguous genitalia, pleural effusion and vertebral anomaly. Analysis using an oligonucleotide microarray (U-array Cyto6000 array platform (Human Genome build: hg 18) indicated that there was a partial trisomy of chromosome 10(19.5 Mb gain) involving 298 oligonucleotides from 10pter to 10p12.33, and a partial monosomy of chromosome 13(18.3 Mb deleted) involving 313 oligonucleotides from 13q32.1 to 13qter. This is the first report of a patient with partial trisomy 10p12.33 and partial monosomy 13q32.1.

A case is described of a neonate with a four-vessel umbilical cord containing two arteries and two veins. This was due to a rare persistence of the caudal portion of the right umbilical vein. The infant had multiple congenital anomalies including a complete atrioventricular canal, an interrupted inferior vena cava, a double superior vena cava, a left ventricular hypoplasia, dextrocardia, situs ambiguous, and malrotation of the small bowel. The birth of an infant with a four-vessel cord mandates comprehensive work-up for associated anomalies. The literature is reviewed.

We report on a 15-month-old girl with a deletion of the distal short arm of chromosome 1p36.3, partial trisomy of the short arm of chromosome 19p13.3, growth and developmental delay, and multiple anomalies including microcephaly, bifrontal prominence, obtuse frontonasal angle, short columella, hypertelorism, sacral dimples, and a bicuspid pulmonary valve. Based on our FISH mapping studies, we estimate the size of the trisomic region of 19p.13.3 to be approximately 3.17 Mb, and the region of monosomy for 1p36.3 as 1.3 Mb. This is the first report of a patient with partial trisomy 19p13.3 and partial monosomy p36.3., (2009 Wiley-Liss, Inc.)

Calcified intraluminal meconium is a rare finding in newborn infants. It is often associated with communication between the urinary and gastrointestinal tracts. Intra-abdominal calcifications are unusual radiographic findings in the newborn and can easily be misinterpreted as meconium peritonitis. We report on a newborn infant with anorectal malformation, meconium balls, intraluminal calcifications, colpocephaly, and agenesis of the corpus callosum, a rare association.

Central venous catheters are widely used in children, particularly in very-low-birth-weight infants in whom long-term access to the venous system is required. This may be achieved by using peripherally inserted central catheters or tunnelled central venous lines (eg Broviac or Hickman lines). Previous case reports of fractured central catheters in premature neonates have involved peripherally inserted silastic catheters. Fractures and embolisation of Broviac central venous fragments have not been previously reported in preterm neonates. We describe a premature neonate with this rare complication along with the retrieval technique used.

Monosomy 1p36 is a newly delineated multiple congenital anomalies/mental retardation syndrome characterized by mental retardation, growth delay, epilepsy, congenital heart defects, characteristic facial appearance, and precocious puberty. It is now considered to be one of the most common subtelomeric micro-deletion syndromes. This article reports new findings of choroid plexus hyperplasia and dextrocardia with situs solitus in a patient who had deletion of chromosome 1p26.33 with a brief review of the literature.

We report a male neonate with a 45 X karyotype; the long arm of a chromosome 15 was translocated onto the proximal long arm of the Y chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal 15q13 and Yq11.2. The derivative chromosome has no primary centromere. Clinical features were compatible with Prader-Willi syndrome. This is the first report case ofmonosomy 15q and Yq deletion with Prader-Willi syndrome.

Otocephaly is a rare lethal malformation of the first and second branchial arches. We report two infants with otocephaly and failed resuscitation. Both infants had pulmonary malformations: pulmonary hypoplasia and two-lobed right lung. We report these rare associations with a brief review of the literature.