Dubowitz syndrome: long-term follow-up of an original patient

American Journal of Medical Genetics
K E HansenR Laxova

Abstract

Dubowitz syndrome is an autosomal recessive disorder of growth retardation, characteristic face, mild mental retardation, and eczema originally described by Dubowitz [1965]. Little information is available on natural history and adulthood in this disorder. We report on a 30-year-old woman who was one of the first patients to be diagnosed with the condition [Grosse et al., 1971, Z Kinderheilkd 110:175-187]. Microcephaly, short stature, leg length discrepancy, hyperextensible joints, spina bifida occulta, and absence of anterior cruciate ligaments were present. Her facial appearance had been modified by several plastic surgery procedures. Eczema resolved with age, with occasional flareups. Asthma, headaches, and seizures were additional medical findings. Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood. Mild mental retardation was present. At age 30 years she is living independently in her own apartment and working full-time in a nearby sheltered workshop.

References

Jan 1, 1979·American Journal of Medical Genetics·J P FrynsH Van Den Berghe
May 1, 1991·British Journal of Haematology·I ThuretH Perrimond
Apr 1, 1990·American Journal of Medical Genetics·H G Ilyina, I W Lurie
Oct 1, 1990·American Journal of Medical Genetics·T Lerman-SagieM Mimouni
Sep 1, 1987·Klinische Pädiatrie·K H Chrzanowska, M Krajewska-Walasek
Nov 1, 1987·European Journal of Pediatrics·F BertholdF Lampert
Apr 1, 1985·The Journal of Pediatrics·T R Walters, F Desposito
Jan 1, 1971·Zeitschrift Für Kinderheilkunde·R GrosseJ M Opitz
Jan 1, 1980·American Journal of Medical Genetics·W W OrrisonR W Chun
Mar 1, 1965·Journal of Medical Genetics·V DUBOWITZ

❮ Previous
Next ❯

Citations

Oct 3, 2006·Srpski arhiv za celokupno lekarstvo·Borislav StijeljaRadovan Milosević
Aug 1, 1997·Rheumatic Diseases Clinics of North America·E C ChalomB H Athreya
Jun 10, 2010·Korean journal of anesthesiology·Min Kee Lee, Yong Seock Lee
May 3, 1996·American Journal of Medical Genetics·M Tsukahara, J M Opitz
Apr 1, 2021·Molecular Genetics & Genomic Medicine·Maria Elisa AmodeoStefano Cianfarani

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.