title: A case of congenital jejunal atresia associated with bilateral athelia and choanal atresia: new syndrome spectrum.
abstract: We present a case of bilateral choanal atresia, cleft of the posterior palate. Cardiac, respiratory and central nervous system examinations were normal. An examination of the chest revealed aplasia of the bilateral absence of the bilateral nipple-areola complex. Skin, soft tissue and bilateral pectoral muscles of the chest wall were normal. The patient did not have scalp nodules or abnormal ears. Four hours after birth, an X-ray examination showed the distended intestinal loops, suggesting small bowel obstruction. Exploration was performed and congenital jejunal atresia was surgically identified. A primary anastomosis was performed. At 3 years of age, the patient had mild mental and growth retardation. Chromosome analysis was normal (46,XX). Magnetic resonance imaging showed no abnormal finding in the spinal cord; however, mild atrophy of the left cerebrum was pointed out. An abdominal echo examination showed no abnormal findings in the kidney. These associations may represent a previously undescribed syndrome spectrum.
authors.affiliation: Department of Gastrointestinal and Pediatric Surgery, Mie University Graduate School of Medicine, Mie, Tsu, Japan.
authors.forename: Keiichi
authors.initials: K
authors.lastname: Uchida
authors.forename: Naomi
authors.initials: N
authors.lastname: Konishi
authors.forename: Mikihiro
authors.initials: M
authors.lastname: Inoue
authors.forename: Kohei
authors.initials: K
authors.lastname: Otake
authors.forename: Masato
authors.initials: M
authors.lastname: Kusunoki
mesh_terms: D002531:Cerebellum / Q000473:pathology; D002754:Choanal Atresia / Q000150:complications / Q000235:genetics / Q000473:pathology*; D041321:Chromosomes, Human, X / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000150:complications / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D007581:Jejunoileal Bypass; D007583:Jejunum / Q000002:abnormalities* / Q000473:pathology; D013577:Syndrome