Dubowitz syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.1 | Congenital malformation syndromes that are predominantly associated with short stature - Dubowitz syndrome |
| ICD-10 online (WHO version 2019) | |
The Dubowitz syndrome is named after the children Euro lodges Victor Dubowitz (* 1931) from Sheffield . He described 1965 a rare autosomal - recessive disorder characterized by the following keynotes :
- Short stature , microcephaly
- eczematous skin changes
- multiple facial malformations such as reduced fissure ( blepharophimosis ), large eye relief ( Hypertelorismus ), lack of saddle nose, ears depression
- sparse hair ( hypotrichosis )
- cognitive development deficit
In addition, an abundance of other symptoms was observed in almost all organ systems, but - like the main symptoms - not all of them have to be present. M. Sukahara and J. M. Opitz (see literature) in 1996, when compiling 141 cases (36 of which had not been reported until then), found that facial malformations were the most important diagnostic sign: microcephaly was found in 112 cases, one blepharophimosis in 60 and one Ptosis in 53 cases. Ilyina and Lurie showed in 1990 that, despite clear microcephaly, severe intellectual disabilities are rare and that about half of the people affected develop cognitively properly.
literature
- Victor Dubowitz: Familial low birthweight dwarfism with an unusual facies and a skin eruption . In: Journal of Medical Genetics , Vol. 2 (1965), pp. 12-17, PMID 14296916 .
- Helene G. Ilyina, Iosif W. Lurie: Dubowitz syndrome. Possible evidence for a clinical subtype . In: American Journal of Medical Genetics , 35 : 561-565 (1990), PMID 2185633 .
- Masato Sukahara, John M. Opitz: Dubowitz syndrome. Review of 141 cases including 36 previously unreported patients . In: American Journal of Medical Genetics , Vol. 63 (1996), pp. 277-289, PMID 8723121 .
