Cloverleaf skull-asphyxiating thoracic dysplasia syndrome

Orpha code: 100978OMIM code:

Definicja

A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Benallegue-Lacete syndrome
Zespół Benallegue i Lacete
Kod ORPHA
100978
Kod OMIM
-
Kod ICD10
Q87.5
Kod ICD11
-

No additional description.

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