We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as with a patent ductus arteriosus (PDA) and pulmonary valve stenosis (PS). Several forms of congenital heart disease (CHD) are found in about 10% of patients with del (18p), but coexisting PDA and PS have not been reported. Del (18p) must be considered in patients with characteristic phenotypic abnormalities and congenital heart disease, including a combination of PDA and PS.
Child, Preschool ; Chromosome Banding ; *Chromosome Deletion ; Chromosomes, Human, Pair 18/*genetics ; Ductus Arteriosus, Patent/genetics/*pathology ; Humans ; Karyotyping ; Male ; Pulmonary Valve Stenosis/genetics/*pathology

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome caused by a defect in cholesterol biosynthesis. The incidence is very low in Asians and only one case has been reported in Korea thus far. Recently, we found an infant with neonatal cholestasis. He had microcephaly, ambiguous genitalia, cleft palate, syndactyly of toes, patent ductus arteriosus and hypertrophic pyloric stenosis. The serum cholesterol was decreased and serum 7-dehydrocholesterol was markedly elevated. Genetic analysis of the DHCR7 gene identified a novel missense mutation (Pro227Ser) as well as a known mutation (Gly303Arg) previously identified in a Japanese patient with SLOS. Although rare in Korea, SLOS should be considered in the differential diagnosis of neonatal cholestasis, especially in patients with multiple congenital anomalies and low serum cholesterol levels.
Amino Acid Substitution ; Base Sequence ; Cholestasis/*diagnosis ; Ductus Arteriosus, Patent/diagnosis ; Electroencephalography ; Humans ; Infant, Newborn ; Liver/pathology/ultrasonography ; Male ; *Mutation, Missense ; Oxidoreductases Acting on CH-CH Group Donors/*genetics ; Phenotype ; Smith-Lemli-Opitz Syndrome/diagnosis/*genetics

OBJECTIVETo explore the clinical characteristics of Cornelia de Lange Syndrome (CdLS) and to review the latest clinical research reports.

METHODClinical and laboratory data of one case of neonatal CdLS are reported, and literature on 17 cases of CdLS in China and the international reports of the clinical and molecular biological research on this disease were reviewed.

RESULT(1) The patient was an infant with intrauterine growth retardation and born as a term small for gestational age infant with specific facial features, bone abnormality of extremities, and patent ductus arteriosus (PDA). She also had severe feeding difficulty and slow weight gain. She was followed up till 4 months of age and showed severe developmental retardation. (2) The total number of past reported case of CdLS in China was 17 with a male to female ratio of 6:12. The average age of diagnosis was 17 months. The following specific facial features could be observed: synophrys, long and curved eyelashes, hirsutism, microcephalus, low hairline, broad depressed nasal bridge, long prominent philtrum, and high palate. Most of the patients were complicated with mental retardation, recurrent vomiting or feeding difficulty, abnormal muscle tone, cutis marmorata, hypophalangism, and genitalia anomaly. Clinical manifestations of Chinese patients were similar to those of the overseas reports. The karyotype of 15 cases was investigated and was normal. The etiology of CdLS is unknown. There is no specific treatment. The commonest causes of death are lung diseases caused by gastroesophageal reflex/aspirate related pneumonia.

CONCLUSIONTypical clinical manifestations of CdLS are specific facial features (mainly synophrys, long and curved eyelashes, long prominent philtrum), complications of multi-system malformations (mainly growth and developmental retardation, esophagogastric reflex, hypophalangism), related gene mutations occurred in NIPBL, SMC1A, and SMC3 gene.

Abnormalities, Multiple ; diagnosis ; genetics ; pathology ; Cause of Death ; Child ; Child, Preschool ; Craniofacial Abnormalities ; diagnosis ; genetics ; pathology ; De Lange Syndrome ; diagnosis ; genetics ; pathology ; Ductus Arteriosus, Patent ; etiology ; Female ; Genetic Testing ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability ; etiology ; Magnetic Resonance Imaging ; Male ; Mutation ; Proteins ; genetics ; Severity of Illness Index