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Article

Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia.

American journal of medical genetics - 1 Jul 2001

Verloes A, Dresse M F, Keutgen H, Asplund C, Smith C I

Abstract excerpt

We report a boy, born to consanguineous patients, with agammaglobulinemia associated with multiple physical anomalies: mild intrauterine growth retardation, extreme microphthalmia (clinical anophthalmia), severe microcephaly, blepharophimosis, long face with temporal narrowing, scaphocephalic skull shape, posterior cleft palate, hypoplastic, adducted thumbs with small nails, and short, inward turned halluces with...

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PMID: 11424135
DOI: 10.1002/ajmg.1373

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