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: Keiichi Uchida, Naomi Konishi, Mikihiro Inoue, Kohei Otake, Masato Kusunoki
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 15 Issue 1 Pg. 37-38 (Jan 2006) ISSN: 0962-8827 [Print] England
• PMID: 16317306 (Publication Type: Case Reports, Journal Article)

Topics

• Cerebellum (pathology)
• Choanal Atresia (complications, genetics, pathology)
• Chromosomes, Human, X (genetics)
• Female
• Humans
• Infant, Newborn
• Intestinal Atresia (complications, genetics, pathology, surgery)
• Jejunoileal Bypass
• Jejunum (abnormalities, pathology)
• Syndrome