Subject(s)
Enchondromatosis/diagnostic imaging , Enchondromatosis/pathology , Sella Turcica/pathology , Adult , Hand Deformities/diagnostic imaging , Hand Deformities/pathology , Headache/diagnostic imaging , Headache/pathology , Humans , Male , Sella Turcica/diagnostic imaging , Tomography, X-Ray ComputedABSTRACT
We report on three male patients from a single family with a brachyturricephaly, "pugilistic" facial appearance, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis. Three other males in the family, now deceased from cardiac disease, appear to have had the same disorder. The mother of the propositus has milder signs of the syndrome. All affected males are related through the maternal line. These cases represent an apparently previously undescribed X-linked recessive syndrome.
Subject(s)
Abnormalities, Multiple/diagnosis , Facial Bones/abnormalities , Musculoskeletal Abnormalities/pathology , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Adult , Aged , Aged, 80 and over , Cardiomyopathies/genetics , Chromosome Aberrations , Chromosome Disorders , Family Health , Foot Deformities/diagnostic imaging , Foot Deformities/genetics , Foot Deformities/pathology , Genes, Recessive/genetics , Genetic Linkage , Hand Deformities/diagnostic imaging , Hand Deformities/genetics , Hand Deformities/pathology , Humans , Joints/abnormalities , Joints/pathology , Male , Middle Aged , Muscle Hypotonia , Musculoskeletal Abnormalities/diagnostic imaging , Musculoskeletal Abnormalities/genetics , Pedigree , Radiography , Syndrome , Uruguay , X ChromosomeABSTRACT
An 8-year-old male patient presented a unique pattern of congenital anomalies. Prominent findings included a combination of severe osteoporosis and congenital oculocutaneous hypopigmentation. The patient may represent a hitherto undescribed syndrome of unknown etiology.