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J B Bateman

Publications and source records attributed to J B Bateman.

93 records · Page 6Linked to original sources
PubMedDate not supplied

The Rieger syndrome and a chromosome 13 deletion.

The Rieger syndrome, characterized by a prominent Schwalbe line, iris strands to the cornea, iris hypoplasia, dental abnormalities, facial malformations, and umbilical defects, is inherited in an autosomal dominant pattern. We studied a boy with the ocular features of the Rieger syndrome, micrognathia, and redundancy of the periumbilical skin. Chromosome analysis revealed an interstitial deletion of the long arm of chromosome 13 involving the distal region of band q14 through band q31. As there was a previous report of the Rieger syndrome in a child with an interstitial deletion of chromosome 13 (q12,q22), we suggest that a gene for this disorder may be located in the segment q14 to q22.

Abnormalities, Multiple↗
PubMedDate not supplied

Oculocutaneous albinism: variable expressivity of nystagmus in a sibship.

Traditionally, the diagnosis of ocular or oculocutaneous albinism (OCA) is based on a constellation of features including the presence of nystagmus associated with iris transillumination defects, hypopigmentation of the fundus, and hypoplasia of the fovea and optic nerve head. Nystagmus is the most frequent ocular sign for the ascertainment of albinism particularly in individuals who have lightly-pigmented parents. We report two siblings, a male and female, with minimal, if any, pigmentation of skin and hair, iris transillumination defects, blond fundi, and hypoplasia of the foveae and optic nerve heads who were discordant for nystagmus; the diagnosis of OCA was based on the clinical findings. These siblings presumably have the same genetic hypopigmentation defect and demonstrate that nystagmus is not a consistent finding in OCA and may not be an absolute criterion for diagnosis.

Albinism↗