- Micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
- Desbuquois dysplasia
Your QuestionI have a 12-year-old granddaughter who has Desbuquois syndrome. Can you provide some information to help me understand this condition?
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- Intrauterine growth retardation;
- Short stature with shortened extremities (arms and legs). Adult stature is usually 114 cm or greater.;
- Generalized joint laxity, which can cause joint dislocations;
- Radial deviation of the fingers with thumbs that are often broad and in the "hitchhiker position";
- Narrow chest with pectus carinatum (which can lead to respiratory infections);
- Distinctive facial characteristics including a round flat face, prominent eyes, micrognathia (small jaw), saddle nose, long upper lip, flat philtrum (area between the upper lip and nose), and short neck;
- Intellectual disability of various degrees;
- Obesity in adults.
Complications may include sleep apnea, frequent respiratory infections, strabismus, club foot, cleft palate, glaucoma, and cryptorchidism (undescended testicle).
There are two forms of Debuquois syndrome that have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies (accessory ossification center situated away (distal) from the second bone of the hand (metacarpal), bifid distal phalanx (the bone of the tip of the finger is divided in two parts), or thumb with delta-shaped phalanx). A variant form of the syndrome, Kim variant, has been described in 7 patients from Korea and Japan, and is characterized by short stature, articular and minor facial anomalies, together with hand anomalies, including short metacarpals (bones of the hand) and fingers with long bones (elongated phalanges) with advanced carpal bone age.
- Faivre L & Cormier-Daire V. Debuquois syndrome. Orphanet. February 2005; http://www.orpha.net/data/patho/Pro/en/Desbuquois-FRenPro1631.pdf. Accessed 9/14/2015.
- Desbuquois syndrome. Orphanet. January, 2015; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1631. Accessed 9/14/2015.
- Desbuquois dysplasia; DBQD. OMIM. December 23, 2014; http://www.ncbi.nlm.nih.gov/omim/251450. Accessed 9/14/2015.
- Kaissi A A, Klaushofer K & Grill F. Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature. Cases Journal. 2009; 2:7873. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2769382/?tool=pubmed. Accessed 9/14/2015.
- Kaissi A. A. & cols. Advanced ossification of the carpal bones, and monkey wrench appearance of the femora, features suggestive of a probable mild form of Desbuquois dysplasia: a case report and review of the literature. Cases Journal. 2009; 2:45. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2648951/. Accessed 9/14/2015.