Samjforum Case Report Penile Agenesis Associated with Treacher Collins Syndrome
نویسنده
چکیده
Penile agenesis or aphallia is a rare congenital anomaly occurring with a frequency of 1:10 -1:30 million newborns. Fewer than 100 cases have been reported worldwide. Associated urogenital malformations and the presence of oligohydramnios with pulmonary hypoplasia determine the infant's viability. Extra-urogenital anomalies have been described in the cardiovascular, gastro-intestinal and musculoskeletal systems.
منابع مشابه
Treacher Collins Syndrome
Treacher Collins syndrome (TCS) is a genetic disease that alters the development of bones and other tissues in the face, and presents variable expressivity. At least three genes TCOF1, POLR1D, and POLR1C were recognized to be at the origin of this syndrome which may be inherited through either an autosomal dominant or autosomal recessive pattern. TCS changes can be divided into otological, opht...
متن کاملResults of the implantation of bone-anchored hearing aids in patients with treacher-collins syndrome
INTRODUCTION Treacher-Collins syndrome is characterized by craniofacial malformations, narrowing of the external auditory canal (EAC), and, in 30% of cases, agenesis of the canal and ossicular chain defects. The use of hearing aids (HA) is not possible in cases in which agenesis or stenosis of the EAC accompanies conductive deafness. In contrast, bone conduction implants such as the Bone Ancho...
متن کاملTreacher Collins Syndrome: A Case Report and a Brief Review on Diagnostic Aids
Treacher Collins syndrome (Mandibulofacial dysostosis) is characterized by deafness, hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of the auricle. Hypoplasia of the facial bones may be the first indicator of the disorder. We present a case report of Treacher Collins syndrome with their ...
متن کاملTreacher Collins Syndrome with choanal atresia: a case report and review of disease features.
Treacher Collins Syndrome--or mandibulofacial dysostosis--is a rare condition that presents several craniofacial deformities of different levels. This is a congenital malformation involving the first and second branchial arches. Incidence is estimated to range between 1-40,000 to 1-70,000 of live births. The disorder is characterized by abnormalities of the auricular pinna, hypoplasia of facial...
متن کاملTreacher Collins syndrome: a case report.
Treacher Collins syndrome is a rare autosomal dominant disorder of craniofacial development. The fully expressed phenotype exhibits characteristic dysmorphic features involving the face, eyes, mandible and ears. We report a case of a 17-year-old woman presenting with the typical orofacial implications of this syndrome.
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