Open AccessJournal Article
Three sibs with mild variety of osteopetrosis.
TLDR
Three sibs with mild autosomal recessive variety of osteopetrosis had a typical facial appearance, and the only atypical features were microcephaly, a normal upper segment to lower segment ratio and a normal arm span.Abstract:
We report three sibs with mild autosomal recessive variety of osteopetrosis. The prominent clinical features were short stature, malocclusion of teeth, hepatosplenomegaly and a typical facial appearance. The only atypical features were microcephaly, a normal upper segment to lower segment ratio and a normal arm span.read more
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Osteomyelitis of the mandible in a patient with osteopetrosis. Case report and review of the literature.
TL;DR: Treatment of osteomyelitis secondary to osteopetrosis is controversial and treatment regimens include high-dose systemic antibiotics coupled with thorough debridement of necrotic bone and primary closure of soft tissues, if possible.
Journal ArticleDOI
9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.
Shane C. Quinonez,John M. Park,Raja Rabah,Kailey M. Owens,Beverly M. Yashar,Thomas W. Glover,Catherine E. Keegan +6 more
TL;DR: It is proposed that a two‐hit mechanism may be involved in the incomplete penetrance and variable expressivity of partial 9p monosomy and an abnormal genital phenotype and the necessity of gonadectomy in this patient population is supported.
Journal ArticleDOI
When bone becomes marble: Head and neck manifestations of osteopetrosis
TL;DR: A 12-year-old boy with osteopetrosis is presented, which may result in complete agenesis of the paranasal sinuses, oral complications and multiple cranial neuropathies.
Journal Article
When bone becomes marble: Head and neck manifestations of osteopetrosis
Journal Article
Disabling Osteopetrosis in an Young Lady.
TL;DR: The case had cranial entrapment neuropathies and severe anaemia due to osteopetrosis and high level of awareness is needed to diagnose the case properly and to help the patient to cope with the disabling features of the disease.
References
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Journal ArticleDOI
A mild autosomal recessive form of osteopetrosis
TL;DR: Ten families from the literature are summarized, which include 18 cases of mild recessive osteopetrosis, which includes four individuals in one kindred with relative or absolute short stature and intrafamilial variability of clinical and radiographic findings.