drome (cerebral gigantism) with peripheral dysostosis. A girl had short stumpy hands and feet due to osseous dystrophy; in other respects she showed all the main and many of the minor features of Sotos ' syndrome during infancy. Then she was on the 97th centile for height, but she grew to be a woman on the 10th centile. Menarche was at 123 years; growth in height stopped before 141 though epiphysial fusion had not occurred; educational difficulties were still being fought at 18 years but she was well adjusted and happy. This case is presented because (1) the combina-tion of cerebral gigantism and gross manupedal dysostosis is unusual, perhaps unique; and (2) growth has been followed from infancy into adult life. Case Report IThe patien...
Myhre syndrome (MS) is a very rare condition described in 1980 characterised by facial dysmorphism, ...
A girl with partial gigantism (the increased I and II fingers of the left foot) is being examined. T...
Sotos syndrome is a genetic condition characterized by overgrowth, advanced bone age and a typical f...
A 12 2/12 year-old boy was admitted to our hospital with the complaint of rapid growth. His birth an...
Although there are several reports on infant and childhood growth in patients with Sotos syndrome, t...
We report a case of sponastrime dysplasia (SEMDSP), which was diagnosed by characteristic clinical a...
Several syndromes have been recognized with digital abnormality and CNS involvement such as oculoden...
The authors report a case of a six-year-old boy with seizures, mental retardation and some classic f...
Acrodysostosis is a rare disease, first described in 1968, characterized by short hands and feet wit...
Progressive diaphyseal dysplasia is characterized clinically by waddling gait, muscle weakness, and ...
Skeletal dysplasias comprise a large group of hereditary disorders characterized by abnormal growth,...
SUMMARY A father and son, both affected by a skeletal dysplasia with severe craniofacial deform-itie...
We present a 27-year-old girl with short trunk stature, generalized rectangular platyspondyly and st...
Abstract. Dysosteosclerosis is a sclerosing bone dysplasia with skeletal changes resembling those of...
Cerebral gigantism is a syndrome consisting of characteristic dysmorphic features, accelerated growt...
Myhre syndrome (MS) is a very rare condition described in 1980 characterised by facial dysmorphism, ...
A girl with partial gigantism (the increased I and II fingers of the left foot) is being examined. T...
Sotos syndrome is a genetic condition characterized by overgrowth, advanced bone age and a typical f...
A 12 2/12 year-old boy was admitted to our hospital with the complaint of rapid growth. His birth an...
Although there are several reports on infant and childhood growth in patients with Sotos syndrome, t...
We report a case of sponastrime dysplasia (SEMDSP), which was diagnosed by characteristic clinical a...
Several syndromes have been recognized with digital abnormality and CNS involvement such as oculoden...
The authors report a case of a six-year-old boy with seizures, mental retardation and some classic f...
Acrodysostosis is a rare disease, first described in 1968, characterized by short hands and feet wit...
Progressive diaphyseal dysplasia is characterized clinically by waddling gait, muscle weakness, and ...
Skeletal dysplasias comprise a large group of hereditary disorders characterized by abnormal growth,...
SUMMARY A father and son, both affected by a skeletal dysplasia with severe craniofacial deform-itie...
We present a 27-year-old girl with short trunk stature, generalized rectangular platyspondyly and st...
Abstract. Dysosteosclerosis is a sclerosing bone dysplasia with skeletal changes resembling those of...
Cerebral gigantism is a syndrome consisting of characteristic dysmorphic features, accelerated growt...
Myhre syndrome (MS) is a very rare condition described in 1980 characterised by facial dysmorphism, ...
A girl with partial gigantism (the increased I and II fingers of the left foot) is being examined. T...
Sotos syndrome is a genetic condition characterized by overgrowth, advanced bone age and a typical f...