نتایج جستجو برای: phocomelia
تعداد نتایج: 723 فیلتر نتایج به سال:
A 50-year-old woman was admitted due to a long-standing history of cutaneous lesions, which were gradually increasing in number and size, located on the trunk and extremities. Histological studies confirmed the initial clinical diagnosis of histiocytomas. Moreover, the patient had numerous smooth erythematous papules on her chin and around her nose, which were diagnosed histologically as angiof...
We report a case of term live baby with tetra-phocomelia born to a 35-year-old G3P2L2A0 with history of consanguineous marriage. She was an unbooked case from a tribal community with no previous antenatal visits. At 39 wk of gestation, she was admitted to our hospital with complaint of pain abdomen and on examination was found to be in second stage of labour. She delivered vaginally a term live...
BACKGROUND In contrast to longitudinal deficiencies, phocomelia is considered a transverse, intercalated segmental dysplasia. Most patients demonstrate severe, but not otherwise classifiable, upper-extremity deformities, which usually cannot be placed into one of three previously described phocomelia groups. Additionally, these phocomelic extremities do not demonstrate true segmental deficits; ...
Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia in humans. In families with these syndromes, we found homozygous missense mutations in the dorsoventral-patterning gene WNT7A and confirmed their functional significance in retrov...
Melek Çiçek, Kafkas Üniversitesi Tıp Fakültesi, Kadın Hastalıkları ve Doğum Anabilim Dalı, Tel. 0506 8609381 Email. [email protected] Geliş Tarihi: 05.12.2011 • Kabul Tarihi: 16.12.2011 ABSTRACT Pentalogy of Cantrell is a rare congenital syndrome; described as the association of partial or complete ectopia cordis, a supraumbilical abdominal wall defect, congenital heart defects, defects ...
Phocomelia is the congenital absence of legs and arms, resulting In the hands and feet being in close proximity to the trunk. Occasionally deformed intermediate segments may be demonstrated radiologically (Carey, 1919), though the limb girdles and digital elements may appear normal. In the past decade interest has been taken in abnormalities showing phocomelia as a result of thalidomide taken b...
A 39-year-old pregnant woman at 38 weeks of gestation was referred with labor pain to a hospital. She had consanguinity with her husband. A female newborn had multiple craniofacial anomalies and phocomelia in right upper limb. The disease locus was assigned to chromosome17q21. Four days later, infant died of cardiopulmonary arrest.
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