[A case of "cri-du-chat" syndrome with meningomyelocele (author's transl)].
This patients is a 48-day-old girl, born as the third child from a 29-year-old healthy mother. The pregnancy was uneventful, and the delivery was normal. Right after birth, she had episode of asphyxia for several minutes. Her weight of birth was 2,600 g, and the head circumference was 30.4 cm. Dyspnea and cyanosis after feeding were noted on the second day. At the time of admission to our service, she showed typical symptoms of "cri-du-chat" syndrome, namely, characteristic cry, mental retardation (DQ was 48), microcephaly (head circumference was 34.5 cm), rounded face, hypertelorism, oblique palpebral fissures, epicanthus, low-set ears, micrognathia, short neck, simian crease. Other abnormalities such as umbilical hernia, prolapsus ani, dislocation of the hip joint, and lumbosacral meningomyelocele. Cerebral angiogram demonstrated no pathological findings. Pneumoencephalogram showed accumulation of air at the cranial base. Operation was performed for repair of meningomyelocele at the age of 50 days. Postoperative course was smooth.
D002905:Chromosomes, Human, 4-5; D003410:Cri-du-Chat Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008591:Meningomyelocele / Q000150:complications* / Q000235:genetics / Q000601:surgery