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15 Minor anomalies malformations and unusual physical features in man
Metaphyseal chondrodysplasia Schmid
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abnormal affected anomalies aplasia autosomal dominant autosomal recessive bilateral birth Bone Dysplasias broad cardiac defect characteristic child chromosome cleft palate Clin clinical picture congenital Course cranium cryptorchidism deformity Differential diagnosis disease distal dysostosis early ears especially etal Etiology extremities fingers Fischer and W.B. Frequency Genetic counseling girl growth deficiency H.-R.W. References hair hands and feet head circumference hearing impairment hereditary disorder heterogeneity hypertelorism hypo hypoplasia hypoplastic hypotonia Illustrations infancy inheritance J.K. References joints kidneys Kinderheilkd macrosomia Main signs males malformations Manifestation mental retardation microcephaly micrognathia mild months nasal root neurological nevus newborn normal nose osteogenesis imperfecta palpebral fissures patients Pediatr percentile phalanges pigmentation polydactyly possible Prenatal diagnosis prognosis psychomotor retardation Radiologically renal scoliosis seizures severe short stature siblings skin small stature strabismus Stuttgart and Philadelphia Supplementary findings svndrome Symptomatic syndactyly syndrome thumbs tion toes Treatment usually variable expression vertebral W.B. Saunders Wiedemann X-linked X-ray