A case of Beals Syndrome in a Filipino child

@#We report a case of a 12-year-old Filipino female with crumpled ears, arachnodactyly, camptodactyly, and congenital joint contractures, consistent with Beals syndrome. Marfan syndrome is a common differential diagnosis, since both are caused by mutations in two homologous genes, namely FBN1 and FBN2. Both syndromes share similar characteristics hence, it is essential to differentiate the two, since Marfan syndrome may develop fatal complications, not encountered in Beals Syndrome. Management of Beals syndrome is mainly supportive including physiotherapy and ophthalmologic and cardiovascular evaluation.

Tel hashomer camptodactyly syndrome a case report / El síndrome de camptodactilia de tel hashomer un reporte de caso

Tel Hashomer camptodactyly syndrome (THCS) is a rare autosomal recessive camptodactyly with muscular involvement. The manifestations of THCS other than camptodactyly are clubbed feet, thenar and hypothenar hypoplasia, abnormal palmar creases and dermatoglyphic ridges, spina bifida and mitral valve prolapse. The syndrome was first described by Goodman et al in 1972 and thereafter two further cases with similar phenotype were seen. Herein, we present another case report and review of the literature of other syndromes associated with camptodactyly and mitral valve prolapse. Further cases with this syndrome need to be reported for mapping of the candidate loci. This will help in planning management and genetic counselling.

El síndrome de camptodactilia de Tel Hashomer (SCTH) es una camptodactilia autosómica recesiva rara con compromiso muscular. Las manifestaciones de SCTH, aparte de la camptodactilia, son: pies equinovaros (zambos), hipoplasia tenar e hipotecar, pliegues palmares anormales, y dermatoglifos, espina bífida, y prolapso de la válvula mitral. El síndrome fue descrito por primera vez por Goodman et al en 1972, tras lo cual se vieron otros dos casos con fenotipos similares. Aquí presentamos otro reporte de caso, y revisamos la literatura de otros síndromes asociados con camptodactilia y el prolapso de la válvula mitral. Se necesitan reportes de otros casos con este síndrome para hacer el mapa de los locus candidatos. Esto ayudará a planear el tratamiento y a decidir el asesoramiento genético.

Camptodactyly in Sotos syndrome.

We describe a girl with Sotos syndrome presenting at two and a half years age with developmental delay. She has camptodactyly which has not previously been reported in Sotos syndrome but is a common finding in Weaver syndrome. Both these conditions have been reported to have NSD1 gene mutations. This report is consistent with the conditions being allelic.

Camptodactyly / 대한정형외과학회잡지

Camptodactyly is a non-traumatic flexion deformity of the PIP joint of the digit (except thumb) and one of rare congenital anomalies of the hand. It may be a clinical manifestation of some other syndrome and may not be a disease of its own right. It is very difficult for this particular problem to get satisfactory results. We analysed 36 digits of 19 patients, whom we treated and followed up for an average of 1.7 years from 1982 to 1988 at the Department of Orthopedic Surgery, Seoul National University Hospital. The following results were obtained. 1. Male to Female ratio is 8: 11 and age ranged from 14 months to 32 years old. 2. Unilateral and single digit involvement is twice more commonly found than bilateral and multiple digit involvement respectively. 3. Third digit is the most frequently involved one in our series. 4. Besides soft tissue contractures on the volar aspects of the PIP joints, other pathologic findings are thick reddish glistening palmar skin in 6 patients, tendon problems in 4 patients and bone-joint hypoplasia in 1 patient. 5. We have done 3 types of operation, that is, skin graft, flexor tenotomy with skin Z-plasty, extensor reconstruction with flexor tenotomy and skin Z-plasty. The results of operations ranged from good to poor, however most cases showed above fair results at the final follow-up. 6. Camptodactyly seems to be a disease of various etiologies and pathologies. And it is strongly suggested that the treatment of this syndrome should be individualized according to their pathologies found at surgery.