Jarcho-Levin syndrome (JLS) is a condition manifested by malformations of vertebral bodes and related ribs. There are two major subtypes spondylocostal dysostosis and spondylothoracic dysostosis, with different survival rates, associated malformations, and inheritance patterns. We have experienced an autopsy case of a premature female fetus with multiple congenital anomalies. She was 30 weeks of gestational age, born as the second baby of twins and expired shortly after birth. A post-mortem examination revealed multiple abnormalities including cervicothoracic hemivertebrae, a diminished number of right-sided ribs, and pulmonary hypoplasia with left diaphragmatic hernia. In addition, there were anomalous rotation of the foregut, unfused pancreas and anomalous drainage of the superior vena cava. Chromosomal analysis showed 46, XX, del(4)(q ter).
Abnormalities, Multiple/genetics/*pathology ; Autopsy ; Chromosome Deletion ; Chromosomes, Human, Pair 4 ; Female ; Humans ; Infant, Newborn ; Ribs/*abnormalities ; Spine/*abnormalities ; Syndrome

OBJECTIVETo investigate the autopsy characteristics, pathologic type, malfomation and genetic characteristics of complete atrioventricular septal defect (CAVSD).

METHODSThirty five cases of CAVSD were collected from Maternal and Child Hospital of Haidian District during Jan.2003 to Jan.2015. Autoptic material, clinical history and chromosome examination were reviewed.

RESULTSAmong 35 cases of CAVSD between 18-38 gestational weeks, there were 26 cases with CAVSD A (74.3%, 26/35), 1 case with CAVSD B (2.8%, 1/35) and 8 cases with CAVSD C (22.8%, 8/35). Only CAVSD malformation was seen in 4 cases (11.4%, 4/35). Multiple malformations were seen in 31 cases (88.6%, 31/35). Combined malformations most frequently occurred in cardiovascular, respiratory and locomotor system. Among 15 cases with chromosome examination, chromosome aberrations was found in 13 cases (13/15) and trisomy-21 was found in 11 cases (11/15).

CONCLUSIONSCAVSD is a rare disease and CAVSD A is the most common type. CAVSD is usually combined with other malformations and chromosome aberrations.

Abnormalities, Multiple ; genetics ; pathology ; Autopsy ; Chromosome Aberrations ; Gestational Age ; Heart Septal Defects ; Humans ; Mitral Valve Insufficiency ; genetics ; pathology

The authors describe a male newborn with multiple congenital anomalies; craniofacial dysmorphism, bilateral cleft palate and lip, ambiguous external genitalia with absence of phallus, ventricular septal defect, agenesis of olfactory bulbs, and presence of small round cells simulating migration defect in the cerebellar white matter. Cytogenetic study demonstrated a chromosomal constitution of 47,XY, +21, +5q. Its pathological significance compared with Down's syndrome and hitherto reported partial trisomy 5q is discussed.
Abnormalities, Multiple/*genetics/pathology ; *Chromosomes, Human, Pair 5 ; Down Syndrome/*genetics/pathology ; Humans ; Infant, Newborn ; Male ; Phenotype ; *Trisomy

Axenfeld-Rieger syndrome (ARS) is associated with ocular and systemic anomalies. PITX2 is known to be a major controlling gene in the pathogenesis of ARS and is associated with differentiation in both the neural crest and mesoderm during eye development. A 4-year-old girl with bilateral ARS had 20 prism diopters (PD) of exotropia with 30PD of A- pattern deviation, more than 20PD of dissociated vertical deviation (DVD), and severe superior oblique overaction (SOOA). During surgery we observed that the SO inserted more posteriorly than normal. We believe this finding is one of the abnormal manifestations of the development of the extraocular muscles in ARS.
*Abnormalities, Multiple ; Anterior Eye Segment/*abnormalities ; Child, Preschool ; Eye Abnormalities/*diagnosis/surgery ; Eye Movements ; Female ; Follow-Up Studies ; Humans ; Oculomotor Muscles/*abnormalities/surgery ; Ophthalmologic Surgical Procedures/*adverse effects ; Optic Nerve/abnormalities ; Postoperative Complications ; Sclera/*pathology/surgery ; Syndrome ; Tooth Abnormalities/*genetics

No abstract available.
Abnormalities, Multiple/*genetics/pathology ; *Chromosomes, Human, Pair 14 ; Clubfoot/*genetics/pathology ; Female ; Gene Duplication ; Heart Defects, Congenital/*genetics/pathology ; Humans ; Infant, Newborn ; Karyotype ; Oligonucleotide Array Sequence Analysis

Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic ‘gain-of-function‘ mutations of the transient receptor potential vanilloid 3 gene (TRPV3), which encodes a cation channel involved in keratinocyte differentiation and proliferation, hair growth, inflammation, pain and pruritus, have been identified to cause OS. Due to the rarity, the pattern of inheritance of OS is still unclear. We report a case of OS in a 3-year-old Korean girl and its underlying gene mutation. The patient presented with a disabling, bilateral palmoplantar keratoderma with onychodystrophy. She also exhibited pruritic eczematous skin lesions around her eyes, ears and gluteal fold. Genetic analysis identified a heterozygous p.Gly568Val missense mutation in the exon 13 of TRPV3. To our knowledge, this is the first case of OS in the Korean population showing a missense mutation p.Gly573Ser.
Abnormalities, Multiple/*genetics ; Base Sequence ; Child, Preschool ; Female ; Heterozygote ; Humans ; Keratoderma, Palmoplantar/genetics ; Lipid Droplets/ultrastructure ; Mutation, Missense/*genetics ; Skin/pathology/ultrastructure ; Syndrome ; TRPV Cation Channels/*genetics

OBJECTIVETo detect potential mutations of gap junction protein beta 2 (GJB2) and loricrin (LOR) genes in two patients with Vohwinkel syndrome.

METHODSPolymerase chain reaction and DNA sequencing were used for detecting potential mutations in the GJB2 and LOR genes. Parents of one patient and 50 healthy individuals were used as controls.

RESULTSA novel homozygous missense mutation (c.A796G) of LOR gene was detected in one patient. The same mutation was not found in the other patient, their relatives and the 50 healthy controls.

CONCLUSIONA missence mutation of LOR gene was detected in a patient with Vohwinkel syndrome.

Abnormalities, Multiple ; genetics ; pathology ; Adult ; Child, Preschool ; Connexin 26 ; Connexins ; genetics ; Female ; Hand Deformities, Congenital ; genetics ; pathology ; Hearing Loss, Sensorineural ; genetics ; pathology ; Humans ; Keratoderma, Palmoplantar ; genetics ; pathology ; Male ; Membrane Proteins ; genetics ; Mutation, Missense ; Sequence Analysis, DNA

Abnormalities, Multiple ; genetics ; Acidosis, Renal Tubular ; genetics ; pathology ; therapy ; Arthrogryposis ; genetics ; pathology ; therapy ; Biopsy ; Carrier Proteins ; genetics ; Cholestasis ; genetics ; pathology ; therapy ; DNA Mutational Analysis ; Humans ; Infant, Newborn ; Mutation ; Syndrome ; Vesicular Transport Proteins ; genetics

OBJECTIVETo carry out genetic analysis for two patients affected with congenital heart disease, developmental delay with or without cleft palate.

METHODSCytogenetic and molecular genetic methods including karyotyping, fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and single nucleotide polymorphisms array (SNP-array) were employed to detect potential mutations. For parents of both patients, MLPA was used to analyze whether they were carrier of the deletion.

RESULTSFor neither patient, no abnormality was detected upon karyotype analysis. However, FISH analysis has indicated the presence of 22q11.2 deletion. SNP-array analysis has confirmed that both patients have carried a 2.5 Mb deletion in the 22q11.2 region. MLPA analysis suggested none of the parents has carried the same deletion.

CONCLUSIONAlthough the phenotypes of our patients were not identical, they were both diagnosed as 22q11.2 deletion syndrome by multiple methods. The deletions in both cases were de novo in nature. Precise delineation of the genotype can facilitate better understanding of the patients' phenotype.

Abnormalities, Multiple ; genetics ; pathology ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 22 ; genetics ; DiGeorge Syndrome ; genetics ; pathology ; Ear, External ; abnormalities ; Genotype ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Male ; Microarray Analysis ; methods ; Phenotype ; Polymorphism, Single Nucleotide ; Syndrome

We report an unbalanced translocation involving chromosome 2 and 7 due to a balanced reciprocal translocation 2;7 in the father. The female fetus had a partial trisomy of the long arm of chromosome 2 with a partial monosomy of distal 7q. Ultrasound at the first trimester had indicated normal fetal anatomy, including normal intracranial structures. Parental karyotypes showed a paternal balanced translocation: 46,XY,t(2;7)(q37.3;->q34). The unbalanced translocation in the fetus resulted in trisomy for 2q37.3 qter and monosomy for 7q34->qter. Postnatal examination showed that the female abortus had a cleft lip and palate, and mild dysmorphic features. The clinical phenotype was in agreement with previous descriptions and allowed us to propose a fetal phenotype for this chromosomal abnormality.
Abnormalities, Multiple/embryology ; Abnormalities, Multiple/genetics* ; Abortion, Habitual/genetics ; Abortion, Therapeutic ; Adult ; Chromosome Disorders/embryology ; Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 2/ultrastructure* ; Chromosomes, Human, Pair 7/ultrastructure* ; Female ; Fetal Diseases/genetics ; Fetal Diseases/pathology ; Fetus/abnormalities* ; Human ; Male ; Monosomy* ; Phenotype ; Pregnancy ; Translocation (Genetics)* ; Trisomy*