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About 18 results

ALLMedicine™ Al-awadi-raas-rothschild Syndrome Center

Research & Reviews  9 results

Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation.
https://doi.org/10.1016/j.ejmg.2017.09.005
European Journal of Medical Genetics; Kantaputra PN, Kapoor S et. al.

Sep 17th, 2017 - Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) is a very rare autosomal recessive limb malformation syndrome caused by WNT7A mutations. AARRS is characterized by various degrees of limb aplasia and hypoplasia. Normal intelligence and malfo...

Schinzel type phocomelia
https://rarediseases.info.nih.gov/diseases/9212/schinzel-type-phocomelia

Aug 7th, 2017 - Al-Awadi-Raas-Rothschild (AARR) syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of AARR syndrome are present from birth and may include having no fibula (lowe...

Schinzel type phocomelia
https://rarediseases.info.nih.gov/diseases/9212/ulna-and-fibula-absence-of-with-severe-limb-deficiency

Aug 7th, 2017 - Al-Awadi-Raas-Rothschild (AARR) syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of AARR syndrome are present from birth and may include having no fibula (lowe...

Schinzel type phocomelia
https://rarediseases.info.nih.gov/diseases/9212/al-awadi-raas-rothschild-syndrome

Aug 7th, 2017 - Al-Awadi-Raas-Rothschild (AARR) syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of AARR syndrome are present from birth and may include having no fibula (lowe...

A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Aw...
https://doi.org/10.1007/s00247-014-3013-1
Pediatric Radiology; Matsushita M, Kitoh H et. al.

May 19th, 2014 - Proximal focal femoral deficiency (PFFD) is a heterogeneous disorder characterized by various degrees of femoral deficiencies and associated anomalies of the pelvis and lower limbs. The etiology of the disease has not been determined. We report on...

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Clinicaltrials.gov  9 results

Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation.
https://doi.org/10.1016/j.ejmg.2017.09.005
European Journal of Medical Genetics; Kantaputra PN, Kapoor S et. al.

Sep 17th, 2017 - Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) is a very rare autosomal recessive limb malformation syndrome caused by WNT7A mutations. AARRS is characterized by various degrees of limb aplasia and hypoplasia. Normal intelligence and malfo...

Schinzel type phocomelia
https://rarediseases.info.nih.gov/diseases/9212/schinzel-type-phocomelia

Aug 7th, 2017 - Al-Awadi-Raas-Rothschild (AARR) syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of AARR syndrome are present from birth and may include having no fibula (lowe...

Schinzel type phocomelia
https://rarediseases.info.nih.gov/diseases/9212/ulna-and-fibula-absence-of-with-severe-limb-deficiency

Aug 7th, 2017 - Al-Awadi-Raas-Rothschild (AARR) syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of AARR syndrome are present from birth and may include having no fibula (lowe...

Schinzel type phocomelia
https://rarediseases.info.nih.gov/diseases/9212/al-awadi-raas-rothschild-syndrome

Aug 7th, 2017 - Al-Awadi-Raas-Rothschild (AARR) syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of AARR syndrome are present from birth and may include having no fibula (lowe...

A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Aw...
https://doi.org/10.1007/s00247-014-3013-1
Pediatric Radiology; Matsushita M, Kitoh H et. al.

May 19th, 2014 - Proximal focal femoral deficiency (PFFD) is a heterogeneous disorder characterized by various degrees of femoral deficiencies and associated anomalies of the pelvis and lower limbs. The etiology of the disease has not been determined. We report on...

see more →