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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family

Fig. 1

The ARO family pedigree & clinical presentation of patients. Upper panel; Pedigree of consanguineous multi-generation Pakistani family demonstrating segregation of osteopetrosis as an autosomal recessive trait. Lower panel; (a) Patient IV-1, a 3-year-old boy with craniofacial symptoms showing exophthalmoses (b) macrocephaly, frontal bossing, flat nasal bridge and hypertelorism (c) protuberance of abdomen due to hepatosplenomegaly (d) limb deformities and muscle wasting. (e) Patient IV-3, a 1-year-old boy with less severe skeletal features including macrocephaly, flat nasal bridge with hypertelorism and mild exophthalmos

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BMC Medical Genetics

ISSN: 1471-2350

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