Acrodysostosis is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis and nasal hypoplasia. Diagnostic approach to this disorder is based on clinical, radiological and hormonal assays. We present a case of 11-year-old female child who presented with the complaint of short stubby hands and feet since birth and facial dysmorphism. Her skeletal survey revealed typical radiographic features of acrodysostosis. Hormonal assays did not reveal any significant abnormality. In this case report, we would like to highlight the clinical and radiological features of this disorder which could be helpful in diagnosis of this rare disease
Background: The heritable skeletal dysplasias or osteochondrodysplasias are a large heterogeneous gr...
Rubinstein-Taybi Syndrome (RTS) is a multiple congenital anomaly syndrome characterized by mental re...
Fibrodysplasia ossificans progressiva (FOP) is a rare and disabling genetic condition characterized ...
Acrodysostosis is a rare syndrome characterised by peripheral dysostosis (gross shortening of hands ...
Acrodysostosis is a rare disease, first described in 1968, characterized by short hands and feet wit...
Introduction: Nager syndrome is a malformation resulting from problems in the development of the fir...
Fibrodysplasia Ossificans Progressiva is a rare debilitating disorder of the musculoskeletal system ...
An 18-year-old man was admitted to the clinic complaining of deterioration in the function of his ha...
International audienceAcrodysostosis (MIM 101800) is a dominantly inherited condition associating (1...
Albright’s hereditary osteodystrophy (AHO) is rare constellation of signs associated with pseudohypo...
We report the skeletal abnormalities in a 4 1/2-year-old boy with acrogeria, a progeroid syndrome of...
Fibrodysplasia ossificans progressiva is a rare autosomal dominantly inherited disorder of connectiv...
Background: Progressive fibrodysplasia ossificans is a rare genetic disease with heterozygous mutati...
Introduction. Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia due to mu...
We present a girl with short stature, growth hormone neurosecretory dysfunction, severe hypoplastic/...
Background: The heritable skeletal dysplasias or osteochondrodysplasias are a large heterogeneous gr...
Rubinstein-Taybi Syndrome (RTS) is a multiple congenital anomaly syndrome characterized by mental re...
Fibrodysplasia ossificans progressiva (FOP) is a rare and disabling genetic condition characterized ...
Acrodysostosis is a rare syndrome characterised by peripheral dysostosis (gross shortening of hands ...
Acrodysostosis is a rare disease, first described in 1968, characterized by short hands and feet wit...
Introduction: Nager syndrome is a malformation resulting from problems in the development of the fir...
Fibrodysplasia Ossificans Progressiva is a rare debilitating disorder of the musculoskeletal system ...
An 18-year-old man was admitted to the clinic complaining of deterioration in the function of his ha...
International audienceAcrodysostosis (MIM 101800) is a dominantly inherited condition associating (1...
Albright’s hereditary osteodystrophy (AHO) is rare constellation of signs associated with pseudohypo...
We report the skeletal abnormalities in a 4 1/2-year-old boy with acrogeria, a progeroid syndrome of...
Fibrodysplasia ossificans progressiva is a rare autosomal dominantly inherited disorder of connectiv...
Background: Progressive fibrodysplasia ossificans is a rare genetic disease with heterozygous mutati...
Introduction. Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia due to mu...
We present a girl with short stature, growth hormone neurosecretory dysfunction, severe hypoplastic/...
Background: The heritable skeletal dysplasias or osteochondrodysplasias are a large heterogeneous gr...
Rubinstein-Taybi Syndrome (RTS) is a multiple congenital anomaly syndrome characterized by mental re...
Fibrodysplasia ossificans progressiva (FOP) is a rare and disabling genetic condition characterized ...