title: A new acro-cranio-facial dysostosis syndrome in sisters.
abstract: Two sisters born to consanguineous parents had a syndrome of short stature, acrocephaly, hypertelorism, proptosis, ptosis, down-slanting palpebral fissures, high nose bridge and anteverted nares, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, sensorineural and conductive deafness, proximally placed first toes and digitalized thumbs, bulbous digits, metatarsus adductus, and pectus excavatum. Radiological abnormalities included craniosynostosis, increased mandibular angle and antegonial notching of mandible; hypoplastic first metacarpals and metatarsals; hypoplastic distal phalanges; partial duplication of the distal phalanx of the thumb; malformed malleus and incus; tall lumbar vertebrae, increased interpedicular distance, and posterior scalloping; flared iliac wings, narrow supraacetabular regions, acetabular "dysplasia," and coxa valga. Autosomal recessive inheritance is suggested.
authors.affiliation: Division of Medical Genetics, Montreal Children's Hospital, Québec, Canada.
authors.forename: P
authors.initials: P
authors.lastname: Kaplan
authors.forename: H
authors.initials: H
authors.lastname: Plauchu
authors.forename: N
authors.initials: N
authors.lastname: Fitch
authors.forename: S
authors.initials: S
authors.lastname: Jéquier
mesh_terms: D002675:Child, Preschool; D003241:Consanguinity; D003394:Craniofacial Dysostosis / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D013577:Syndrome