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Microcephaly in familial holoprosencephaly.

H H Ardinger¹, J A Bartley

¹Dept. of Pediatrics, University of Iowa, Iowa City 52242.

Journal of Craniofacial Genetics and Developmental Biology

|January 1, 1988

Summary

Holoprosencephaly (HS) involves brain and face development issues. Microcephaly is a key sign of mild HS, important for evaluating relatives of affected individuals.

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Area of Science:

Genetics
Developmental Biology
Pediatric Neurology

Background:

Holoprosencephaly sequence (HS) is a congenital disorder affecting forebrain and midface development.
Familial holoprosencephaly exhibits variable expressivity, with potential for milder, unrecognized forms.
Autosomal dominant inheritance patterns have been suggested for familial HS.

Observation:

A large kindred with holoprosencephaly was evaluated, including individuals with severe brain anomalies and milder manifestations.
Previous studies suggested hypotelorism and missing central incisors as mild HS signs.
Microcephaly was the most consistent clinical finding among mildly affected individuals in this cohort.

Findings:

Microcephaly is a significant indicator of mild holoprosencephaly (HS) in familial cases.
The study identified 12 individuals with minor HS manifestations, predominantly characterized by microcephaly.
Severe HS cases were observed alongside milder presentations within the same family.

Implications:

Head circumference measurement is crucial for evaluating relatives of patients diagnosed with holoprosencephaly.
Early identification of microcephaly can aid in diagnosing milder forms of HS in at-risk families.
This research highlights the importance of recognizing subtle clinical signs for comprehensive familial HS assessment.

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