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
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.