Prenatal sonographic diagnosis of Aarskog syndrome
| Autor: | M Aracena, V Dezerega, E Horvath, W Sepulveda |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Adult
Male medicine.medical_specialty Hydronephrosis Genitalia Male Short stature Ultrasonography Prenatal Pregnancy medicine Humans Radiology Nuclear Medicine and imaging Abnormalities Multiple Hypertelorism Radiological and Ultrasound Technology business.industry Brachydactyly Long philtrum Shawl scrotum Facies Anatomy Syndrome medicine.disease Hypoplasia Surgery Clubfoot Aarskog Syndrome Female medicine.symptom business Interphalangeal Joint Hand Deformities Congenital Neck |
| Zdroj: | Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine. 18(10) |
| ISSN: | 0278-4297 |
| Popis: | In 1970, Aarskog described a rare X-linked developmental disorder characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia (faciodigitogenital syndrome). The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak hair anomaly, and ocular and ear anomalies. Limb abnormalities consist of short broad hands, brachydactyly, interdigital webbing, hypoplasia of the middle phalanges, proximal interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints, and flat broad feet with bulbous toes. Genital anomalies are characteristics and include shawl scrotum, cryptorchidism, and inguinal hernia. Most affected patients have normal intelligence, but some authors have noted mild neurodevelopmental delay in up to 30% of the cases. We describe a case of Aarskog syndrome diagnosed prenatally by sonography at 28 weeks' gestation in a high-risk pregnancy for this disorder. |
| Databáze: | OpenAIRE |
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