Add to ORKGA 11 month-old-year boy presented with moon shaped face, limb shortening, deformity of hands and feets, low stature with weight on percentile 95, without macrocephaly. Analytically he presented with hypocalcaemia, hyperphosphatasemia and high parathormone. The skeleton x-ray did not show bone dysplasia. The typical phenotype led to the diagnosis of Osteodistrophy of Albright
The skeletal dysplasias form a large group of hereditary disorders characterized by abnormal growth ...
Hypophosphatasia is a hereditary autosomal recessive disease characterized by a defect in tissuenons...
Albright hereditary osteodystrophy (AHO) is a genetic syndrome characterized by a distinctive set of...
A 23-year-old woman presented with subcutaneous ossification, which together with short stature, sto...
The authors observed different clinical forms of Albright's hereditary osteodystrophy in 4 members o...
Albright`s hereditary osteodystrophy (AHO) has a broad spectrum of physical findings, including shor...
Albright hereditary osteodystrophy (AHO) is a disorder characterised by short stature, obesity, subc...
The skeletal dysplasias form a large group of hereditary disorders characterized by abnormal growth ...
Metatropic dysplasia (MD) is a rare skeletal dysplasia associated with heterozygous mutations in the...
Albright`s hereditary osteodystrophy is an inherited syndrome that encompasses endocrinologic anomal...
Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) within the gene TNSALP that encodes...
Hypophosphatasia (HPP) is a rare condition characterized by abnormal bone mineralization. The manife...
Summary: Albright hereditary osteodystrophy (AHO) is a genetic syndrome characterized by a distincti...
Pseudohypoparathyroidism (PHP) is an inherited metabolic disorder characterized by end-organ resista...
Background. Hypophosphatasia is rare hereditary disease caused by deficiency of the tissue-nonspecif...
The skeletal dysplasias form a large group of hereditary disorders characterized by abnormal growth ...
Hypophosphatasia is a hereditary autosomal recessive disease characterized by a defect in tissuenons...
Albright hereditary osteodystrophy (AHO) is a genetic syndrome characterized by a distinctive set of...
A 23-year-old woman presented with subcutaneous ossification, which together with short stature, sto...
The authors observed different clinical forms of Albright's hereditary osteodystrophy in 4 members o...
Albright`s hereditary osteodystrophy (AHO) has a broad spectrum of physical findings, including shor...
Albright hereditary osteodystrophy (AHO) is a disorder characterised by short stature, obesity, subc...
The skeletal dysplasias form a large group of hereditary disorders characterized by abnormal growth ...
Metatropic dysplasia (MD) is a rare skeletal dysplasia associated with heterozygous mutations in the...
Albright`s hereditary osteodystrophy is an inherited syndrome that encompasses endocrinologic anomal...
Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) within the gene TNSALP that encodes...
Hypophosphatasia (HPP) is a rare condition characterized by abnormal bone mineralization. The manife...
Summary: Albright hereditary osteodystrophy (AHO) is a genetic syndrome characterized by a distincti...
Pseudohypoparathyroidism (PHP) is an inherited metabolic disorder characterized by end-organ resista...
Background. Hypophosphatasia is rare hereditary disease caused by deficiency of the tissue-nonspecif...
The skeletal dysplasias form a large group of hereditary disorders characterized by abnormal growth ...
Hypophosphatasia is a hereditary autosomal recessive disease characterized by a defect in tissuenons...
Albright hereditary osteodystrophy (AHO) is a genetic syndrome characterized by a distinctive set of...