A m e r i c a n Journal of Medical Genetics 35484-489 (1990)

New Acrofacial Dysostosis Syndrome in 3 Sibs Jose Ignacio Rodriguez, Jose Palacios, a n d Miguel Urioste Department of Pathology, Hospital L a Paz, (J.I.R.,JP.) and Estudio Colaborativo Espaiiol ale Malformaciones Congdnitas (ECEMC), School of Medicine, University Complutense (M.U.), Madrid We performed clinical and autopsy studies on 3 sibs with a n acrofacial dysostosis (AFD) syndrome. All 3 died neonatally from respiratory complications derived from their severe mandibular hypoplasia. They presented a malformation syndrome characterized by mandibulofacial dysostosis, predominantly preaxial limb deficiencies, rare postaxial limb anomalies, shoulderlpelvis girdle hypoplasia, and cardiac and CNS malformations. This syndromal form of AFD could represent a distinct entity with autosomal-recessive inheritance. Its delineation from other AFD syndromes is discussed.

et al., 1979;Halal et al., 19831,whichinvolves AFD with preaxial upper limb defects without or with minor lower limbs involvement. Recently, Opitz [19871 postulated that Nager AFD represents an “anomaly” rather than a syndrome because its apparent causal heterogeneity. We report on 3 successive sibs affected by an apparently previously undescribed autosomal recessive AFD syndrome.

CLINICAL REPORTS Patient 1 The patient, a male, was born in 1979 after an uncomplicated term pregnancy to a 23-year-old primigravid white mother and a 31-year-old white father. Birthweight was 2,020 g (

New acrofacial dysostosis syndrome in 3 sibs.

We performed clinical and autopsy studies on 3 sibs with an acrofacial dysostosis (AFD) syndrome. All 3 died neonatally from respiratory complications...
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