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ALLMedicine™ Aarskog Syndrome Center

Research & Reviews  5 results

Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: litera...
https://doi.org/10.1007/s00381-021-05409-z
Child's Nervous System : ChNS : Official Journal of the I... Menezes AH, Traynelis VC

Nov 23rd, 2021 - Cervical kyphosis is rare in the pediatric population. It may be syndromic or acquired secondary to laminectomy, neoplasia, or trauma. Regardless, this should be avoided to prevent progressive spinal deformity and neurological deficit. Long-term f...

Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Lite...
https://doi.org/10.1016/j.joms.2018.03.027
Journal of Oral and Maxillofacial Surgery : Official Jour... Depeyre A, Schlund M et. al.

Apr 25th, 2018 - Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott syndrome (ASS) is based on clinical dysmorphologic findings and can be supported ...

Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe cranio...
https://doi.org/10.1007/s00431-014-2317-3
European Journal of Pediatrics; Völter C, Martínez R et. al.

Apr 29th, 2014 - Aarskog syndrome (AAS) is an X-linked human disease that affects the skeletal formation and embryonic morphogenesis and is caused by mutations in the FGD1 gene. Patients typically show distinctive skeletal and genital developmental abnormalities, ...

Aarskog syndrome
https://rarediseases.info.nih.gov/diseases/4775/aarskog-syndrome

Sep 7th, 2011 - Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face.[1] Intellectual development may also be affected. About 20 percent of people with Aarskog-Scott syndrome have mutatio...

Bilateral anterior hip dislocation in a child with Aarskog syndrome: a case report.
https://doi.org/10.1097/BPO.0b013e3181845700
Journal of Pediatric Orthopedics; Zielinski JA, Pack LL

Sep 25th, 2008 - Both Aarskog syndrome and atraumatic anterior hip dislocation are rare entities. Aarskog syndrome is an X-linked recessive disorder with facial, digital, and genital anomalies and is associated with varying degrees of ligamentous laxity. This is b...

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