Genetic Heterogeneity of Cebocephaly

Genetic heterogeneity of cebocephaly.

Further studies on the genetic heterogeneity of cebocephaly.

The detailed morphological description of 4 cases with cebocephaly, 3 of which were karotyped (one with D trisomy and 2 with normal karyotypes), are presented. Analysis of all cytogenetically studied cases with this malformation reveals that cebocephaly with a normal karyotype may result from more than one mutant gene, and so it may be accompanied by different extracranial abnormalities. On the...

Cebocephaly: CT and sonographic findings.

A 2760 g female infant was born at term to a gravida 6 para 5 mother after a normal pregnancy with no history of exposure to alcohol , teratogens , or ionizing radiation. Abnormal findings on physical examination were slight hypertonicity , respiratory distress in room air, and microcephaly (head circumference < -3 SD). The hard palate was intact. The anterior and posterior fontanelles were sma...

Alobar holoprosencephaly associated with cebocephaly and craniosynostosis.

Cebocephaly is a very rare congenital midline facial anomaly characterized by a blind-ended single nostril and ocular hypotelorism, and is usually combined with alobar holoprosencephaly. We report here a case of alobar holoprosencephaly with cebocephaly and craniosynostosis. Chromosomal analysis revealed normal karyotyping. The facial dysmorphism was characterized by the single nostril, hypotel...

Cebocephaly in an infant with trisomy 18.

An infant who died in the perinatal period with the unusual association of trisomy 18 and cebocephaly is described. It is suggested that this association may be more common than is generally recognised because the majority of such infants are stillborn or live only briefly and often do not have chromosome studies performed.