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 derived from their severe mandibular hypoplasia. They presented a malformation syndrome characterized by mandibulofacial dysostosis, predominantly preaxial limb deficiencies, rare postaxial limb anomalies, shoulder/pelvis 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.
Rodríguez
J I
JI
Department of Pathology, Hospital La Paz, Madrid, Spain.
Palacios
J
J
Urioste
M
M
D003937:Diagnosis, Differential; D005121:Extremities / Q000000981:diagnostic imaging; D005808:Genes, Recessive; D006343:Heart Septal Defects; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis* / Q000235:genetics; D008844:Micrognathism; D011859:Radiography