ANOPHTHALMIA, CLEFT LIP PALATE, FACIAL ANOMALIES, AND CNS ANOMALIES AND HYPOTHALAMIC DISORDER IN A NEWBORN - A MIDLINE DEVELOPMENTAL FIELD DEFECT/

Citation
Lg. Leichtman et al., ANOPHTHALMIA, CLEFT LIP PALATE, FACIAL ANOMALIES, AND CNS ANOMALIES AND HYPOTHALAMIC DISORDER IN A NEWBORN - A MIDLINE DEVELOPMENTAL FIELD DEFECT/, American journal of medical genetics, 50(1), 1994, pp. 39-41
Citations number
23
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
50
Issue
1
Year of publication
1994
Pages
39 - 41
Database
ISI
SICI code
0148-7299(1994)50:1<39:ACLPFA>2.0.ZU;2-X
Abstract
We describe an infant with a unique pattern of midline defects, includ ing anophthalmia, cleft lip and palate, macrocephaly, cutis aplasia, a nd micrognathia. CNS anomalies including massive hydrocephalus with de struction of most recognizable structures were observed. The infant al so developed panhypopituitarism, diabetes insipidus, and a seizure dis order. We postulate that this patient could represent a more complex f orm of the Delleman syndrome or a new morphogenetic syndrome secondary to ventral induction with extension to the developmental fields of th e first and second branchial arches. (C) 1994 Wiley-Liss, Inc.