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A 19-Week-Old Fetus With Craniosynostosis, Renal Agenesis and Gastroschisis: Case Report and Differential Diagnosis

Identifieur interne : 000555 ( Main/Exploration ); précédent : 000554; suivant : 000556

A 19-Week-Old Fetus With Craniosynostosis, Renal Agenesis and Gastroschisis: Case Report and Differential Diagnosis

Auteurs : Consolato Sergi [Allemagne] ; Henning Stein [Allemagne] ; Josef G. Heep [Allemagne] ; Herwart F. Otto [Allemagne]

Source :

RBID : ISTEX:1384D25CD5B4D3C632513C46FA9CECDF1DC03F33

English descriptors

Abstract

A case of a fetus affected with craniosynostosis, unilateral renal agensis and gastroschisis is reported. The propositus was delivered on the 19th week of gestation for premature rupture of the membranes. Macroscopy showed turricephaly, shallow orbits, exophthalmos, hypertelorism, hypoplastic maxilla with relative mandibular prognathism and gastroschisis. Additional autopsy findings included a premature bilateral closure of the lambdoid suture and a unilateral renal agenesis. The nosological aspects of this fetus and the differential diagnosis of well-described craniosynostosis syndromes with characteristic craniofacial growth patterns (Crouzon syndrome, Jackson-Weiss syndrome, Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome) are discussed.

Url:
DOI: 10.1016/S0344-0338(97)80018-0


Affiliations:


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