POSTER PRESENTATION Open Access
The Guadalajara-Camptodactyly Syndrome-anunusual caseRP Khubchandani1*, RP Hasija2, M Dewoolkar3
From 18th Pediatric Rheumatology European Society (PReS) CongressBruges, Belgium. 14-18 September 2011
BackgroundCamptodactyly in seen in several syndromes, one suchbeing the very rare Autosomal Recessive Guadalajarasyndrome. Three distinct variants have been described(OMIM IDs 211910, 211920, % 611929).
AimWe describe our experience with a child with the Gua-dalajara syndrome who showed overlapping features oftypes I and II.
MethodsA case description with a picture essay of the indexcase.
DescriptionA 10 year old female, born of third degree consanguinitywas referred for abnormal skeletal findings and sus-pected arthritis. On examination she had camptodactylyof all digits. Facial dysmorphism, camptodactyly, skeletalfindings and subnormal intelligence were suggestive ofthe Guadalajara Syndrome. Facial dysmorphism (midfa-cial hypoplasia, hypertelorism, long neck, small, poster-iorly rotated ears) and subnormal intelligence werecompatible with Type I variant but muscle (glutealhypoplasia), genital (labial hypoplasia) and skeletal find-ings (brachydactyly, simian creases, osteopenia and pel-vic hypoplasia) were seen as has been described in theType II variant. Other additional findings (not reportedon OMIM to date), were a cervical rib, flattened thenareminences, divarication of rectii and exomphalos. Shortstature and microcephaly, known to be common to boththe variants, were also noted.
ConclusionsThis child had overlapping features of both types of var-iants of the Guadalajara Syndrome. Her subnormalintelligence and craniofacial features were that of Type Iwhile musculoskeletal findings were that of Type II.This leaves us to speculate that the two variants areprobably not distinct entities but there exists a continu-ing spectrum in the syndrome.
Author details1Pediatric Rheumatology Clinic, Jaslok Hospital, Mumbai, India. 2PediatricRheumatology Clinic, Jaslok Hospital, Mumbai, India. 3PediatricRheumatology Clinic, Jaslok Hospital, Mumbai, India.
Published: 14 September 2011
doi:10.1186/1546-0096-9-S1-P221Cite this article as: Khubchandani et al.: The Guadalajara-CamptodactylySyndrome-an unusual case. Pediatric Rheumatology 2011 9(Suppl 1):P221.
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* Correspondence: [email protected] Rheumatology Clinic, Jaslok Hospital, Mumbai, IndiaFull list of author information is available at the end of the article
Khubchandani et al. Pediatric Rheumatology 2011, 9(Suppl 1):P221http://www.ped-rheum.com/content/9/S1/P221
© 2011 Khubchandani et al; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the CreativeCommons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, andreproduction in any medium, provided the original work is properly cited.
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