ABSTRACT
Eight pedigrees of patients with Marfan syndrome are presented. In addition, four pedigrees of patients with conditions sometimes showing a marfanoid body habitus are described: Wagner-Stickler syndrome, multiple endocrine neoplasia type III, Ehlers-Danlos syndrome type VIA, and congenital contractural arachnodactyly type II. Emphasis is placed on the importance of genetic information in the differential diagnosis and management of patients and family members by the ophthalmologist.
Subject(s)
Ectopia Lentis/diagnosis , Genetic Counseling , Lens Subluxation/diagnosis , Marfan Syndrome/genetics , Adolescent , Adult , Child , Child, Preschool , Diagnosis, Differential , Ehlers-Danlos Syndrome/diagnosis , Endocrine System Diseases/complications , Eye Diseases/complications , Female , Heart Diseases/complications , Humans , Infant , Infant, Newborn , Male , Marfan Syndrome/diagnosis , Middle Aged , Neoplasms/complications , Pedigree , SyndromeSubject(s)
Coloboma/genetics , Contracture/congenital , Marfan Syndrome/genetics , Uvea/abnormalities , Adolescent , Adult , Child , Choroid/abnormalities , Female , Genes, Dominant , Humans , Infant , Iris/abnormalities , Limb Deformities, Congenital , Male , Marfan Syndrome/diagnostic imaging , Middle Aged , Pedigree , Radiography , SyndromeABSTRACT
A family had the following manifestations of Waardenburg's syndrome (WS): prominent nasal root, white forelock, premature graying of the hair, freckled pigmentation of pale skin, hypoplastic heterochromia irides, heterochromia of the ocular fundi, congenital sensorineural hearing loss, and autosomal dominant heredity. This family differs from those previously reported in that none of its members showed dystopia of the inner canthi or lower puncta. In addition, four siblings had the combination of hyperopia-estropia-amblyopia, as well as ocular albinism, manifested by foveal hypoplasia and transilluminable irides. Observations on this family support prior suggestions of heterogeneity in WS.
Subject(s)
Abnormalities, Multiple/genetics , Albinism/genetics , Retinal Diseases/genetics , Waardenburg Syndrome/genetics , Adolescent , Adult , Albinism/pathology , Child , Child, Preschool , Deafness/complications , Female , Genes, Dominant , Hair Color , Humans , Infant , Infant, Newborn , Iris/pathology , Male , Middle Aged , Nose , Pedigree , Retinal Diseases/pathology , Skin Pigmentation , Waardenburg Syndrome/pathologyABSTRACT
A patient with typical thoracic-pelvic-phalangeal dystrophy has survived to the age of 11 years with no pulmonary problem except a single episode of pneumonia at the age of 5 years. She has no evidence of renal disease. An associated ocular lesion resembled Leber's congenital amaurosis clinically but was different on electrophysiologic testing.
Subject(s)
Bone Diseases, Developmental/complications , Macular Degeneration/etiology , Retinal Degeneration/etiology , Anthropometry , Bone Diseases, Developmental/diagnosis , Child , Child, Preschool , Electroretinography , Evoked Potentials , Female , Fingers/abnormalities , Humans , Macular Degeneration/diagnosis , Macular Degeneration/physiopathology , Pelvic Bones/abnormalities , Physical Examination , Retina/physiopathology , Syndrome , Thorax/abnormalitiesABSTRACT
Acromesomelic dwarfism is a distinct condition characterized by short stature of the short limb type, with the hands and feet showing the most obvious deviations from normal. The forearm bones are usually disproportionately shorter than the other long tubular bones of the limbs. The intelligence is normal. Available data suggest autosomal recessive transmission. Characteristic clinical and radiographic features permit establishment of a confident diagnosis in the first year of life.
Subject(s)
Bone and Bones/abnormalities , Dwarfism/diagnosis , Achondroplasia/diagnosis , Bone and Bones/diagnostic imaging , Child , Child, Preschool , Diagnosis, Differential , Dwarfism/diagnostic imaging , Dwarfism/genetics , Female , Forearm/abnormalities , Hand Deformities, Congenital , Humans , Infant , Male , Phenotype , Radiography , Spine/abnormalitiesABSTRACT
We have examined 233 members of eight families with BMD. Of these, 169 were also examined with EOG. Sibships wherer greater than or equal to 80% of members were examined clinically and with EOG totaled 39. The results established both the validity and reliability of EOG testing in detecting people genetically affected with BMD. Hyperopia is established as an important manifestation of the disease. The visual prognosis of BMD is described.
