Maxillo-mandibular development in cerebrocostomandibular syndrome.
Cerebrocostomandibular syndrome is a potentially lethal developmental disorder characterized by mental handicap, palatal defects, micrognathia, and severe costovertebral defects. We report a 3-day-old male neonate who died of respiratory difficulty that began at birth. Micrognathia, glossoptosis, high-arched palate, and hypoplasia of the lower half of the face were present. Multiple posterior rib defects and a narrow rib cage were associated with pulmonary hypoplasia. The rib gaps were filled with fibrovascular tissue. A facial bone study showed multifocal growth retardation involving the septal cartilage, vomer, and mandibular condyle, indicative of maxillomandibular growth arrest. The tongue had an abnormal genioglossus muscle and papillae.
Kang
Y K
YK
Department of Pathology, Seoul National University Children's Hospital, Seoul National University College of Medicine, Korea.
Lee
S K
SK
Chi
J G
JG
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D008437:Maxilla / Q000002:abnormalities*; D012272:Ribs / Q000002:abnormalities*; D013577:Syndrome