The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.

Abstract:

:A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed.

journal_name

J Med Genet

authors

Farag TI,al-Awadi SA,Marafie MJ,Bastaki L,al-Othman SA,Mohammed FM,AlSuliman IS,Murthy DS

doi

10.1136/jmg.30.1.62

subject

Has Abstract

pub_date

1993-01-01 00:00:00

pages

62-4

issue

1

eissn

0022-2593

issn

1468-6244

journal_volume

30

pub_type

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