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 dominant inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the mal...

Lipofibromatosis is a rare tumor of infancy, which has been reported about 10 years ago, and since then very few reports have been published. This tumor has been reported in association with congenital anomalies such as macrosyndactyly, but there is no report of multiple congenital anomalies with lipofibromatosis in the English literature as far as our knowledge goes. Herein, we report a case o...

Polydactyly is the congenital presence of one or more extra digits. The extra digit often does not contain a full complement of bones. Unilateral syndactyly and polydactyl mixed-breed dog was used as a case study. A three-month old unvaccinated intact female mixed breed dog weighing 8 kg, presented with a deformity of the left forepaw was used for this study. The deformity had been present sinc...

uterine growth retardation, breech presentation, failure to thrive, vomiting in infancy, microcephaly, mental deficiency, blepharoptosis, short nose with a broad bridge and anteverted nares, broad maxillary alveolus, micrognathia, short neck, hypospadias and cryptorchidism (in males), simian palmar creases, metatarsus adductus, pedal syndactyly, and abnormal dermatoglyphic patterns. Additional ...

A girl with a high and microbrachycephalic cranium (but without craniosynostosis), antimongoloid palpebral fissures, external strabismus, microsomy, a peculiarly shaped nose, soft tissue syndactyly in the right hand and both feet, and psychomotor retardation was found to have a deletion of chromosome 2 (q35----qter) and a Robertsonian translocation 13;14 inherited from her healthy father. The g...

A patient with a partial deletion (q23 leads to qter) of the long arm of chromosome 11 presented with craniosynostosis and syndactyly. These characteristics, which have not been previously reported with 11q--, expand the phenotype of this syndrome and emphasise the need for chromosome analysis with banding techniques in multiple congenital anomaly syndromes, even if the patient could be classif...

Proteus syndrome is a rare congenital disorder comprised of subcutaneous and internal hamartomas, miscellaneous skin and vascular nevi, skeletal and nervous system and eye malformations, with characteristic manifestations including hemihypertrophy, local gigantism, macrodactyly and cerebriform thickness of soles and palms. A 23 year-old man with diagnosis of proteus syndrome had sever ane...

A new rainfrog of the Eleutherodactylus milesi group is described from the Sierra de Xucaneb, Guatemala. It is compared to the other 11 upland species from southern Mexico, Guatemala and Honduras referred to the group. Within the milesi group the new species differs from the other five forms which also have toe fringes in size of the finger disks, the snout shape in profile and the amount of to...