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The Pointer syndrome: A new syndrome with skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties

✍ Scribed by Huq, A.H.M. Mahbubul; Braverman, Richard M.; Greenberg, Frank; Bacino, Carlos A.; Rimoin, David L.; Lachman, Ralph S.; Levin, Michael L.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 423 KB
Volume: 68
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970120)68:2<225::aid-ajmg21>3.0.co;2-v

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✦ Synopsis

We describe a brother and sister with a unique combination of skeletal findings including camptodactyly (phalangeal dislocations), facial anomalies, neonatal respiratory problems, and feeding problems due to poor suck. Metaphyseal splaying, osteopenia, endosteal bone apposition, campomelia, and multiple fractures characterize the other skeletal abnormalities. The parents are first cousins once removed and are unaffected. These cases appear to represent a previously undescribed autosomal recessive disorder.

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