Biology:Mietens syndrome
From HandWiki
Mietens syndrome is a autosomal recessive disorder first described by Mietens and Weber.[1]
Symptoms
- Intellectual disability
- Flat feet
- Crossed eyes
- Severe postnatal growth retardation
- Nystagmus
- Narrow nose
- Short forearm bones
- Absent proximal radial epiphyses
- Autosomal recessive inheritance
- Dislocated radial head[2]
History
The condition is named after a German physician named Carl Mietens.[3]
In 1966, Carl Mietens and Helge Weber published a series of cases of four children who suffered from a cluster of congenital anomalies. In 2006, two documented has been reported.[4]
References
- ↑ Jones, H. Royden; Vivo, Darryl C. De; Darras, Basil T. (2003) (in en). Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach. Butterworth-Heinemann. pp. 137. ISBN 978-0-7506-7190-3. https://books.google.com/books?id=ilPXTTWImh4C&newbks=0&printsec=frontcover&pg=PA137&dq=Mietens+syndrome&hl=en.
- ↑ "Mietens-Weber syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/diseases/3524/mietens-weber-syndrome.
- ↑ Beighton, Greta (2012-12-06) (in en). The Person Behind the Syndrome. Springer Science & Business Media. ISBN 978-1-4471-0925-9. https://books.google.com/books?id=d0cIBgAAQBAJ&newbks=0&printsec=frontcover&pg=PT607&dq=mietens+syndrome&hl=en.
- ↑ Martínez-Glez, Víctor; Lapunzina, Pablo; Delicado, Alicia; Tendero, Adrián; Mori, María Angeles; de Torres, María Luisa; Fernández, Luis; Palomares, María et al. (July 2006). "Mietens-Weber syndrome: two new patients and a review". Clinical Dysmorphology 15 (3): 175–177. doi:10.1097/01.mcd.0000204985.54366.a7. ISSN 0962-8827. PMID 16760739. https://pubmed.ncbi.nlm.nih.gov/16760739/.
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