Femoral Focal Deficiency: A Rare Case Report.

Proximal focal femoral deficiency is an uncommon congenital deformity characterized by defective morphogenesis of the proximal femur resulting in shortening of the affected limb. Incidence being 1/50000 to 1/200,000 populations. The etiology is unknown and idiopathic. Often the diagnosis is made by radiological evaluation, which helps in identifying and evaluation of associated limb anomalies. When in doubt magnetic resonance imaging help to find out whether the cartilaginous femoral head is present or not. Usually a disorder is unilateral, but bilateral involvement is seen rarely. May be associated with other anomalies like cleft palate, spinal anomalies, and congenital heart defects. Treatment goals being satisfactory ambulation and specific treatment depending on the age of presentation and severity of dysplasia.

Lobster claw deformity.

Endogenous erythroid colony (EEC) syndrome comprise of three cardinal features, i.e. ectrodactyly, ectodermal dysplasia and cleft lip. EEC itself has three different forms. Ectrodactyly (absence of one or more digits) can be present with clefting in the proximal portion of hand or foot known as split hand foot malformation (SHFM) or lobster claw deformity. SHFM can be of four types depending upon the different responsible chromosomal loci. SHFM-4 can be present as pure limb malformation (non-syndromic form). In this article, describes a rare case report of lobster claw deformity patient.

Split-hand/feet malformation in three tamilian families and review of the reports from India.

Split‑hand/foot malformation (SHFM) is a rare condition which can be either syndromic or nonsyndromic. We report three unrelated pedigrees, one with autosomal dominant (AD) inheritance and the other two with autosomal recessive (AR) pattern. We also briefly review the published reports from India.

Proteus syndrome: Clinical profile of six patients and review of literature.

OBJECTIVE: Proteus syndrome (PS) is characterized by patchy or segmental overgrowth and hyperplasia of multiple tissues and organs, along with susceptibility to development of tumors. Very few cases are reported in literature from developing countries. Due to certain overlapping features with other overgrowth syndromes, diagnosis is usually delayed. Our aim was to describe clinical profile of this rare condition in six patients. MATERIALS AND METHODS: Retrospective case sheet review of patients followed in a Pediatric Genetic and Metabolic clinic at a tertiary care institute of North India with a diagnosis of hemihypertrophy/overgrowth syndrome. RESULTS: Six cases presented with asymmetric overgrowth and peculiar features suggestive of PS were included in this study. Age at presentation was 2 months to 10 years; two were males and four were females. Hemihypertrophy was noticed in only one case at birth, and focal overgrowths in rest of other patients were seen later during childhood. CONCLUSION: Due to certain overlapping features with other overgrowth syndromes, diagnosis of PS is usually delayed. Pediatricians are the first persons who come across such patients and they should be aware about this rare condition.

Ectrodactyly/split hand feet malformation.

Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.

Características clinicogenética y epidemiológica de los defectos por reducción de extremidades informados al Registro de Malformaciones Congénitas / Clinical, genetic and epidemiologic characteristics of defects due to reduction of extremities informed to the congenital malformations registration

Se revisaron los expedientes de todos los niños con defectos congénitos por reducción de extremidades, notificados al Registro de Malformaciones Congénitas de Santiago de Cuba en el período comprendido de 1997 al 2004, así como los protocolos de las muertes fetales o abortos inducidos terapéuticamente, de donde se extrajeron los datos primarios de interés. La frecuencia de dichas anomalías fue de 0,43 por cada 1 000 nacidos vivos, con predominio de los defectos terminales transversos y de la afectación unilateral de los miembros superiores. No se obtuvo información relevante sobre la exposición a algún agente teratogénico conocido. Las formas aisladas primaron sobre las asociadas

Malformaçöes congênitas do aparelho locomotor na cidade de Joäo Pessoa: prevalência e aspectos prognósticos / Congenital malformation of the locomotor system in Joäo Pessoa, Northeast-brazil: prevalence and prognostic aspects

a prevalência real, sistematizada, das MFC do AL ainda nÝo é inteiramente conhecida no Brasil, sobretudo na regiÝo nordeste. O objetivo do presente trabalho foi determinar, através de exame clínico, feito por um ortopedista, nas primeiras 24 horas de vida, a prevalência da MFC do AL. Foram avaliados, clinicamente, 2001 RN de quatro maternidades, representativas dos diferentes estratos sociais da populaçÝo estudada, na cidade de JoÝo Pessoa, durante o período de outubro de 1996 a maio de 1997. A investigaçÝo foi realizada de forma randômica nas maternidades escolhidas. NÝo foi utilizado nenhum exame complementar. As prevalências da MFC maiores, memores e dos defeitos posturais, na presente investigaçÝo, foram respectivamente: 0,8por cento; 2,4 porcento; e 49,2 porcento dos RN avaliados. Os resultados indicam que a prevalência das MFC maiores do AL é semelhante àquela apresentada na literatura, quando o exame é feito pelo especialista e a pesquisa é sistematizada; entretanto a pevalência das MFC menores e dos defeitos posturais é, significativamente, maior do que aquela encontrada por nÝo especialistas