Potential oligogenic disease of mental retardation, short stature, spastic paraparesis and osteopetrosis

Seckel syndrome is an extremely rare inherited disorder characterised by severe growth retardation in utero, which continues later in life, resulting in short stature. Seckel syndrome presents as microcephaly, mental retardation, and a beak-like nose. This report describes a patient with Seckel syndrome who had bilateral cataract and underwent uneventful small incision cataract surgery in both eyes. The association of cataract with Seckel syndrome has not been described in the literature to the best of the authors’ knowledge.

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Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: Two additional cases

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.31990 ◽

2007 ◽

Vol 143A (21) ◽

pp. 2581-2587 ◽

Cited By ~ 6

Author(s):

Kim Keppler-Noreuil ◽

Judy Welch ◽

Katherine Baker-Lange

Keyword(s):

Down Syndrome ◽

Mental Retardation ◽

Short Stature ◽

Sensorineural Deafness ◽

Facial Appearance ◽

Congenital Cataracts

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MOSAICISM OF AN ABNORMALLY LONG B CHROMOSOME IN A BOY WITH PHYSICAL AND MENTAL RETARDATION

PEDIATRICS ◽

10.1542/peds.39.1.68 ◽

1967 ◽

Vol 39 (1) ◽

pp. 68-74

Author(s):

Lillian Y. F. Hsu ◽

Iris Nemhauser ◽

Hilda K. Bettmann ◽

Edna H. Sobel

Keyword(s):

Mental Retardation ◽

Short Stature ◽

Cell Line ◽

Normal Cell ◽

B Chromosome ◽

B Chromosomes ◽

Normal Cell Line

An 11-year-old boy with short stature, mental retardation, low-set ears, simian creases, unusual dermatoglyphic patterns, and bilateral dysplastic mid-phalanges of the fifth fingers was found to have mosaicism in both leukocyte and fibroblast (skin) cultures. The normal cell-line predominated and the second cell-line contained an abnormally long chromosome B. The autoradiographic studies suggest that the abnormally long chromosome may involve a No. 5 which contains a translocated on inserted segment of an unknown donor autosome. The possible mechanism for the occurrence of this abnormality is discussed. Nine other instances of abnormally long B chromosomes (with lengthened long arm due to translocation) are reviewed and compared.

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The Langer-Giedion Syndrome: Report of a 22-Year-Old Woman

PEDIATRICS ◽

10.1542/peds.64.4.542 ◽

1979 ◽

Vol 64 (4) ◽

pp. 542-545

Author(s):

William G. Wilson ◽

Robert T. Herrington ◽

Arthur S. Aylsworth

Keyword(s):

Mental Retardation ◽

Short Stature ◽

Clinical Course ◽

Malignant Change ◽

Delayed Puberty ◽

Protruding Ears ◽

Sparse Hair ◽

Multiple Cartilaginous Exostoses ◽

Syndrome Report

A 22-year-old woman with the Langer-Giedion syndrome and delayed puberty is presented. Pertinent features include a bulbous nose, sparse hair, protruding ears, multiple cartilaginous exostoses, cone-shaped phalangeal epiphyses, short stature, microcephaly, and mental retardation. She is the oldest patient thus far described with this condition, and is compared to the ten previously published cases. The clinical course of patients with the Langer-Giedion syndrome and the possibility of malignant change in the exostoses have not been established.

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