Abstract Atelosteogenesis type 2 also known as atelosteogenesis de la Chapelle type, De la Chapelle dysplasia, McAlister dysplasia or neonatal osseous dysplasia 1 is an extremely lethal osteochondrodysplasia with unknown incidence. Very few cases have been reported in the literature. We present a case with findings of prenatal ultrasound, autopsy and cytogenetic work up with report of a novel familial mutation.
Case Reports in Perinatal Medicine – de Gruyter
Published: Mar 1, 2016
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