期刊
CLINICAL DYSMORPHOLOGY
卷 16, 期 2, 页码 85-88出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MCD.0b013e3280464ff6
关键词
acrofacial dysostosis; cleft mandible; hip subluxation; hypoplasia of clavicle; mesomelic shortening of limbs; Richieri-Costa/Pereira syndrome
The Richieri-Costa/Pereira form of acrofacial dysostosis is an autosomal-recessive condition characterized by short stature, Pierre-Robin sequence, preaxial and postaxial abnormalities in hands, congenital talipes, cleft mandible and malformations of the larynx. We report female infant presenting with severe micrognathia, a hypoplasic clavicle, median mandible cleft, bilateral hand abnormalities and talipes, laryngeal malformations, hip subluxation with acetabular dysplasia and mesomelic shortening of limbs. A few reported patients have clavicular hyploplasia but hip subluxation with acetabular dysplasia and mesomelic shortening of limbs have not been described.
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