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[Carpenter's syndrome].

C Piussan, M Van Poperinghe, Y Grumbach

Archives Francaises De Pediatrie

|November 1, 1977

Summary

This summary is machine-generated.

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Carpenter syndrome is a rare genetic disorder causing craniosynostosis and limb abnormalities. Early diagnosis and genetic counseling are crucial for affected families.

Area of Science:

Medical Genetics
Pediatrics
Clinical Dysmorphology

Background:

Carpenter syndrome is a rare genetic disorder.
Characterized by craniosynostosis and syndromic features.
Autosomal recessive inheritance pattern.

Observation:

Newborn with acrocephaly, coronal craniosynostosis, and high forehead.
Facial asymmetry, posterior cleft palate, syndactyly, and polydactyly.
Congenital heart disease present in half of published cases.

Findings:

Distinguishing Carpenter syndrome from Apert syndrome based on polydactyly.
Apert syndrome presents with normal finger/toe counts and dominant inheritance.
Carpenter syndrome requires autosomal recessive genetic counseling.

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Implications:

Highlights the importance of accurate diagnosis for genetic counseling.
Differentiates Carpenter syndrome from similar conditions like Apert syndrome.
Emphasizes the need for genetic counseling in autosomal recessive disorders.