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RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly
Author(s) -
Mumtaz Sara,
Yıldız Esra,
Jabeen Saliha,
Khan Amjad,
Tolun Aslıhan,
Malik Sajid
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37299
Subject(s) - microcephaly , brachydactyly , short stature , intellectual disability , medicine , pediatrics , genetics , genetic heterogeneity , biology , phenotype , gene
Primary microcephaly is clinically variable and genetically heterogeneous. Four phenotypically distinct types of autosomal recessive microcephaly syndromes are due to different RBBP8 mutations. We report on a consanguineous Pakistani family with homozygous RBBP8 mutation c.1808_1809delTA (p.Ile603Lysfs*7) manifesting microcephaly and a distinct combination of skeletal, limb and ectodermal defects, mild intellectual disability, minor facial anomalies, anonychia, disproportionate short stature and brachydactyly, and additionally talipes in one patient. © 2015 Wiley Periodicals, Inc.