A case of symbrachydactyly with oligodactyly

The term symbrachydactyly describes syndactyly accompanied by brachydactyly: Brachydactyly is seen in middle phalanges of both hands and feet and very short in length or absent. As for syndactyly it is a cutaneous type. It has always been observed unilaterally and sporadically, A familial type of this syndrome has also been reported. There have been many classifications of symbrachydactyly. Of these, Blauth classification is the most favored one. Yet these classifications have been inadequate to include many recently discovered other forms of symbrachydactyly. A three month old child was brought to the Istanbul University Genetic Research Center because of his abnormal hands and feet. He was the second child of a couple who had no kinship ties to each other. In the history of the family, there was no mention of any anomaly as such. There was a complete syndactyly involving the 3rd through the 5th fingers, partial syndactyly between the 2nd and 3rd, and the thumb was normal in the right hand. There was only one finger in the left hand. There was total syndactyly in four toes of the right foot with oligodactyly and absence of the big toe. The left foot had five toes with a complete syndactyly between the 2nd and the 3rd. Radiological observation indicated that the middle phalanges of both extremities were rudimentary or never developed. There was no osseous syndactyly. As observed in this case, oligodactylous type that is bilateral and involves both hands and feet together is very unusual. The purpose of this study is to present a rare case of this anomaly that requires a reassessment of symbrachydactyly and its traditional classifications

Dysmorphic face in two siblings with infantile neuroaxonal dystrophy

Dysmorphic face in two siblings with infantile neuroaxonal dystrophy. Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive, neurodegenerative disease with onset in the first or second year of life. It has been reported that INAD shows numerous phenotype characteristics including problems associated with vision, hearing and physical coordination. It has however been very rare to see facial dysmorphism in these children. The study analyzes a girl and boy of a first cousin marriage with infantile neuroaxonal dystrophy affected at birth. At infancy, the children were examined in the Cerrahpa a Medical Faculty Genetic Research Center, Istanbul. They had typical INAD features such as the lack of head control, vision, speech, sitting, and walking which are also seen in children with other congenital abnormalities. These children showed remarkable dysmorphism in the face which included prominent forehead, strabismus, small nose, fish mouth (boy), micrognathia. and large and low-settled ears. The presence of these facial features makes the patients appear unique and diagnosis more accurate. While these features are commonly seen diagnosis may be difficult at its onset. Until now this appearence has not been reported in INAD patients. In conclusion, in the first few months of life without any clinical or neurological signs, the physician should also consider diagnosing the disease of the infant as INAD

A case of acampomelic campomelic dysplasia

A Case of Acampomelic Campomelic Dysplasia: Acampomelic campomelic dysplasia is a rare variant of campomelic dysplasia syndrome affecting bone and connecting tissue. This syndrome is implicated by the absence of bowed limbs. Affected children have a characteristically smooth facial profile and are born with respiratory distress. A 15 day old Turkish boy presented with a small flat face, dolicocephalic head, proptotic eyes, short neck, low-set cars and a small thoracic cage. Limbs were mesomelically short and bilateral talipes equinovarus was present. The radiological findings indicated hypoplastic scapulae, narrow ribs, small thorax, thin claviculaes, and small iliac wings. Angulation of the femur, tibia and humerus was not observed. Our case, suited to acampomelic campomelic dysplasia, is discussed with differential diagnosis and compared with previously reported cases of the syndrome

A variant of Cenani-Lenz type syndactyly

Cenani-Lenz syndrome is a form of complete syndactyly resembling the spoon hand in Apert syndrome. It Is often associated with disorganization of phalanges, the fusion of metacarpals and mesomelic shortness of the arm. We describe an additional case of Cenani-Lenz type of syndactylism in a 16 month-old girl who also has rib and vertebral abnormalities and mixed type hearing loss, that have not been seen before in a single patient