New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis.

Abstract:

: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.

journal_name

Clin Dysmorphol

journal_title

Clinical dysmorphology

authors

Golbert MB,Dewes LO,Philipsen VR,Wachholz RS,Deutschendorf C,Leite JC

doi

10.1097/MCD.0b013e3280464ff6

subject

Has Abstract

pub_date

2007-04-01 00:00:00

pages

85-8

issue

2

eissn

0962-8827

issn

1473-5717

pii

00019605-200704000-00004

journal_volume

16

pub_type

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