POSTER PRESENTATION Open Access The Guadalajara-Camptodactyly Syndrome-an unusual case RP Khubchandani 1* , RP Hasija 2 , M Dewoolkar 3 From 18th Pediatric Rheumatology European Society (PReS) Congress Bruges, Belgium. 14-18 September 2011 Background Camptodactyly in seen in several syndromes, one such being the very rare Autosomal Recessive Guadalajara syndrome. Three distinct variants have been described (OMIM IDs 211910, 211920, % 611929). Aim We describe our experience with a child with the Gua- dalajara syndrome who showed overlapping features of types I and II. Methods A case description with a picture essay of the index case. Description A 10 year old female, born of third degree consanguinity was referred for abnormal skeletal findings and sus- pected arthritis. On examination she had camptodactyly of all digits. Facial dysmorphism, camptodactyly, skeletal findings and subnormal intelligence were suggestive of the Guadalajara Syndrome. Facial dysmorphism (midfa- cial hypoplasia, hypertelorism, long neck, small, poster- iorly rotated ears) and subnormal intelligence were compatible with Type I variant but muscle (gluteal hypoplasia), genital (labial hypoplasia) and skeletal findings (brachydactyly, simian creases, osteopenia and pel- vic hypoplasia) were seen as has been described in the Type II variant. Other additional findings (not reported on OMIM to date), were a cervical rib, flattened thenar eminences, divarication of rectii and exomphalos. Short stature and microcephaly, known to be common to both the variants, were also noted. Conclusions This child had overlapping features of both types of variants of the Guadalajara Syndrome. Her subnormal intelligence and craniofacial features were that of Type I while musculoskeletal findings were that of Type II. This leaves us to speculate that the two variants are probably not distinct entities but there exists a continu- ing spectrum in the syndrome. Author details 1 Pediatric Rheumatology Clinic, Jaslok Hospital, Mumbai, India. 2 Pediatric Rheumatology Clinic, Jaslok Hospital, Mumbai, India. 3 Pediatric Rheumatology Clinic, Jaslok Hospital, Mumbai, India. Published: 14 September 2011 doi:10.1186/1546-0096-9-S1-P221 Cite this article as: Khubchandani et al.: The Guadalajara-Camptodactyly Syndrome-an unusual case. Pediatric Rheumatology 2011 9(Suppl 1):P221. Submit your next manuscript to BioMed Central and take full advantage of: • Convenient online submission • Thorough peer review • No space constraints or color ﬁgure charges • Immediate publication on acceptance • Inclusion in PubMed, CAS, Scopus and Google Scholar • Research which is freely available for redistribution Submit your manuscript at www.biomedcentral.com/submit * Correspondence: [email protected] 1 Pediatric Rheumatology Clinic, Jaslok Hospital, Mumbai, India Full list of author information is available at the end of the article Khubchandani et al. Pediatric Rheumatology 2011, 9(Suppl 1):P221 http://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 Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

The Guadalajara-Camptodactyly Syndrome-an unusual case

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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.

Submit your next manuscript to BioMed Centraland take full advantage of:

• Convenient online submission

• Thorough peer review

• No space constraints or color figure charges

• Immediate publication on acceptance

• Inclusion in PubMed, CAS, Scopus and Google Scholar

• Research which is freely available for redistribution

Submit your manuscript at www.biomedcentral.com/submit

* 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.

mailto:[email protected]

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