Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder in a newborn: a midline developmental field defect.
We describe an infant with a unique pattern of midline defects, including anophthalmia, cleft lip and palate, macrocephaly, cutis aplasia, and micrognathia. CNS anomalies including massive hydrocephalus with destruction of most recognizable structures were observed. The infant also developed panhypopituitarism, diabetes insipidus, and a seizure disorder. We postulate that this patient could represent a more complex form of the Delleman syndrome or a new morphogenetic syndrome secondary to ventral induction with extension to the developmental fields of the first and second branchial arches.
Leichtman
L G
LG
Department of Pediatrics, Eastern Virginia Medical School, Norfolk 23501-1980.
Wood
B
B
Rohn
R
R
D000015:Abnormalities, Multiple; D000853:Anophthalmos; D002490:Central Nervous System / Q000002:abnormalities*; D002971:Cleft Lip; D002972:Cleft Palate; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007031:Hypothalamus / Q000002:abnormalities; D007231:Infant, Newborn