Mietens syndrome
| Mietens syndrome | |
|---|---|
| Other names | |
 | |
| This condition is inherited via an autosomal recessive pattern | |
Mietens syndrome is a autosomal recessive disorder first described by Mietens and Weber.[3] The condition is named after a German physician named Carl Mietens.[4]
Only 9 cases have been reported.[5]
Symptoms and signs[edit]
- Intellectual disability[6]
- Flat feet[6]
- Crossed eyes[6]
- Severe postnatal growth retardation[6]
- Nystagmus[6]
- Narrow nose[6]
- Short forearm bones[6]
- Absent proximal radial epiphyses[6]
- Autosomal recessive inheritance[6]
- Dislocated radial head[6]
- Sclerocornea has been reported in this condition.[7]
History[edit]
In 1966, Carl Mietens and Helge Weber reported cases of four children, 3 sisters and 1 brother. Who suffered from a cluster of congenital anomalies and mental retardantion.[8]
In 2006, two documented has been reported.[9]
References[edit]
- ^ "Mietens-Weber syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
- ^ "Mietens-Weber syndrome".
- ^ Jones, H. Royden; Vivo, Darryl C. De; Darras, Basil T. (2003). Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach. Butterworth-Heinemann. p. 137. ISBN 978-0-7506-7190-3.
- ^ Beighton, Greta (2012-12-06). The Person Behind the Syndrome. Springer Science & Business Media. ISBN 978-1-4471-0925-9.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Mietens syndrome". www.orpha.net. Retrieved 2021-09-10.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ a b c d e f g h i j "Mietens-Weber syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-08-27.
- ^ Traboulsi, Elias I. (2012-01-12). Genetic Diseases of the Eye. Oxford University Press, USA. p. 93. ISBN 978-0-19-532614-7.
- ^ Winter, Robin M.; Baraitser, Michael (2013-12-20). Multiple Congenital Anomalies: A Diagnostic Compendium. Springer. p. 406. ISBN 978-1-4899-3109-2.
- ^ Martínez-Glez, Víctor; Lapunzina, Pablo; Delicado, Alicia; Tendero, Adrián; Mori, María Angeles; de Torres, María Luisa; Fernández, Luis; Palomares, María; Pajares, Isidora López (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. S2CID 7225698.