Ectrodactyly and Prenatal Diagnosis
نویسندگان
چکیده
منابع مشابه
Ectrodactyly and prenatal diagnosis.
Ectrodactyly is an autosomal dominant ectodermal dysplasia presenting as bilateral congenital malformed hands and feet [1]. It affects about 1 in 90,000 births with males and females equally as likely to be affected. It is characterized by transverse terminal aphalangia or partial to total absence of the distal segments of fingers. It may involve one or more digits or the full hand and even par...
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Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are a...
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As part of an assessment for preeclampsia, a prenatal sonogram performed on a pregnant woman at 33 weeks 4 days' gestation showed ectrodactyly in all 4 fetal extremities. The woman's husband had a history of hand abnormalities but was unaware that his condition was genetic. His examination was notable for ectrodactyly, small, peg-shaped teeth, microretrognathia, nail dysplasia, and a history of...
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Introduction Ectrodactyly, also known as split hand/foot malformation, is a rare developmental abnormality of the limbs that consists of absent central digits, a deep median cleft, and fusion of the remaining lateral digits, ultimately producing clawlike extremities. This case represents one of the earliest reported diagnoses of this anomaly to utilize three-dimensional (3D) ultrasonography. Ca...
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Congenital granular cell tumor (GCT) is a relatively rare intraoral benign tumor, approximately 200 cases of which have been reported in the neonatal period worldwide. The newborn infant may have feeding problems and respiratory difficulties due to airway obstruction. This lesion may be diagnosed by prenatal ultrasonography and simple resection is mostly required. We report a case of an adult t...
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ژورنال
عنوان ژورنال: The Journal of Obstetrics and Gynecology of India
سال: 2011
ISSN: 0971-9202,0975-6434
DOI: 10.1007/s13224-012-0120-5