Greta Beighton

de la Chapelle, A.

de la Chapelle dysplasia, also known as atelosteogenesis type II, is a lethal form of neonatal dwarfism in which gross limb shortening is associated with a characteristic triangular configuration of the radius and ulna. Inheritance is autosomal recessive.

Fryns, J-P.

Fryns syndrome is a potentially lethal malformation complex comprising a coarse facies, corneal clouding, cleft soft palate, pulmonary hypoplasia, diaphragmatic defects and abnormalities of the distal portions of the limbs and the digits. Inheritance is autosomal recessive.

Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping

The acromesomelic dysplasias (AMDs) are a group of genetic disorders that primarily affect the middle and distal segments of the extremities. A form of AMD is present on the isolated island of St Helena in the South Atlantic, which has a population of approximately 5500 derived from a number of founder individuals. DNA from four affected individuals and 11 first‐degree relatives in four related nuclear families segregating an AMD was collected for gene mapping studies. Six consecutive markers on chromosome 9, spanning an approximately 5 cM region, showed identical homozygosity in all affected individuals, thus identifying a region of homozygosity by descent. Multipoint analysis generated a maximum lod score of Z=2.85. These data localize the gene for this dysplasia to the pericentromeric region of chromosome 9 where the gene for the Maroteaux form of AMD is situated. The identification of the gene responsible for this disorder may shed further light on the complex processes involved in limb morphogenesis.

Watson, G.H.

Watson syndrome is an autosomal dominant disorder comprising cafe-au-lait macules, pulmonary stenosis and dull intelligence. The condition probably represents a sub-type of neurofibromatosis.

GOODMAN,Richard M

GOODMAN syndrome, or Tel-Hashomer camptodactyly, comprises digital contractures, a distinctive facies, muscular hypoplasia and multiple skeletal abnormalities. Inheritance is autosomal recessive.

BELL, Sir Charles

BELL’S PALSY of the seventh cranial nerve causes asymmetry of the face due to weakness of the facial muscles. The condition may be unilateral or bilateral; closure of the eye is defective, the angle of the mouth drops and there is difficulty in speaking and drinking. There are many causes of facial nerve palsy, including a genetic form which is transmitted as an autosomal dominant trait.

NOONAN, Jacqueline A

Noonan syndrome comprises stunted stature, webbed neck, a characteristic facies and cardiac anomalies, notably pulmonary stenosis.

Lynch, H.T.

Lynch syndrome I represents a familial proclivity to nonpolyposis colorectal cancer. Lynch syndrome II, hereditary non-polyposis colorectal cancer (HNPCC), has the additional feature of a very high risk for other adenocarcinomas. Both disorders are inherited as autosomal dominant traits.

Kaufman, R. L.

Kaufman oculocerebrofacial syndrome comprises mental retardation, ocular abnormalities, high palate and micrognathia. The disorder is an autosomal recessive trait.

KALLMANN, Franz Josef

KALLMANN syndrome is a genetically heterogeneous disorder in which hypogonadism and anosmia are the major manifestations.