منابع مشابه
BMS1 Is Mutated in Aplasia Cutis Congenita
Aplasia cutis congenita (ACC) manifests with localized skin defects at birth of unknown cause, mostly affecting the scalp vertex. Here, genome-wide linkage analysis and exome sequencing was used to identify the causative mutation in autosomal dominant ACC. A heterozygous Arg-to-His missense mutation (p.R930H) in the ribosomal GTPase BMS1 is identified in ACC that is associated with a delay in 1...
متن کاملAplasia cutis congenita
The patient was a female neonate bornprematurely at 36 weeks of gestation by a Cesareansection. During pregnancy, the mother had nohistory of fever, drug use, or X-ray exposure.The mother was gravida 2 and had no history ofabortion. Her first child was healthy. There wasno record of birth trauma. The perinatal historywas negative for intrauterine trauma, the use ofantithyroid medication, or mis...
متن کاملAplasia cutis congenita: a case report
Aplasia cutis congenita is the congenital absence of skin mostcommonly affecting the scalp. No definite etiology is available butmultiple causes such as intrauterine infection, fetal exposure tococaine, heroin, alcohol or antithyroid drugs, vascular disruption,genetic causes, syndromes and teratogens have been suggested.We present an infant with extensive aplasia cutis of the trunk andthigh. He...
متن کاملAplasia cutis congenita.
Two cases of aplasia cutis congenita are reported here. One of the cases also had pre- and postaxial polydactyly and other digital anomalies.
متن کاملType V aplasia cutis congenita
Ann Saudi Med 30(2) March-April 2010 www.saudiannals.net 171 A two-hour-old female neonate, a product of nonconsanguineous marriage with unremarkable family history, was brought with well-defined bilaterally symmetrical and superficial erosions on the knees, trunk and lower limbs with sparing of scalp and mucosa (Figure 1). Biopsy revealed an absence of epidermis and superficial dermis. Antenat...
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ژورنال
عنوان ژورنال: PLoS Genetics
سال: 2013
ISSN: 1553-7404
DOI: 10.1371/journal.pgen.1003573