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

PEDIATRICS ◽  
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.

Nicolaides???Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals

2003 ◽  
Vol 12 (4) ◽  
pp. 237-240 ◽  
Author(s):  
Gilles Morin ◽  
Lucie Villemain ◽  
Clarisse Baumann ◽  
Mich??le Mathieu ◽  
Nathalie Blanc ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Sparse Hair

Short stature and delayed puberty in gymnasts: Influence of selection bias on leg length and the duration of training on trunk length

2000 ◽  
Vol 136 (2) ◽  
pp. 149-155 ◽  
Author(s):  
Shona Bass ◽  
Michelle Bradney ◽  
Georgina Pearce ◽  
Elke Hendrich ◽  
Karen Inge ◽  
...  
Keyword(s):  
Short Stature ◽  
Selection Bias ◽  
Delayed Puberty ◽  
Leg Length ◽  
Trunk Length

scholarly journals Megalocornea-mental retardation syndrome: report of a new case.

1996 ◽  
Vol 33 (10) ◽  
pp. 882-883 ◽  
Author(s):  
I Barisic ◽  
I Ligutic ◽  
L Zergollern
Keyword(s):  
Mental Retardation ◽  
Syndrome Report

Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome?

2010 ◽  
Vol 155 (1) ◽  
pp. 9-13 ◽  
Author(s):  
Shubha R. Phadke ◽  
Sheetal Sharda ◽  
Jill Urquhart ◽  
Emma Jenkinson ◽  
Shobhit Chawala ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Short Stature

scholarly journals MR and CT imaging in the Dyke-Davidoff-Masson syndrome: report of three cases and contribution to pathogenesis and differential diagnosis

1998 ◽  
Vol 56 (4) ◽  
pp. 803-807 ◽  
Author(s):  
PAULO HENRIQUE AGUIAR ◽  
WEI LIU CHING ◽  
HELIO LEITÃO ◽  
F. ISSA ◽  
GUILHERME LEPSKI ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Mental Retardation ◽  
Brain Injury ◽  
Paranasal Sinuses ◽  
Facial Asymmetry ◽  
Cerebral Injury ◽  
Radiological Features ◽  
Cerebral Hemiatrophy ◽  
The Brain ◽  
Syndrome Report

Cerebral hemiatrophy or Dyke-Davidoff-Masson syndrome is a condition characterized by seizures, facial asymmetry, contralateral hemiplegia or hemiparesis, and mental retardation. These findings are due to cerebral injury that may occur early in life or in utero. The radiological features are unilateral loss of cerebral volume and associated compensatory bone alterations in the calvarium, like thickening, hyperpneumatization of the paranasal sinuses and mastoid cells and elevation of the petrous ridge. The authors describe three cases. Classical findings of the syndrome are present in variable degrees according to the extent of the brain injury. Pathogenesis is commented.

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

2018 ◽  
Vol Volume 11 ◽  
pp. 129-134
Author(s):  
Abdulaziz Alsemari ◽  
Mohanned Alsuhaibani ◽  
Rawabi Alhathlool ◽  
Bayan Mamdouh Ali
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Spastic Paraparesis

scholarly journals Cataract in Seckel Syndrome

1970 ◽  
Vol 13 (1) ◽  
pp. 12-15
Author(s):  
Vinita Girish Rao ◽  
Gunjan Abhijit Deshpande ◽  
Girish Shiva Rao ◽  
Pooja G Rehman
Keyword(s):  
Mental Retardation ◽  
Cataract Surgery ◽  
Short Stature ◽  
Growth Retardation ◽  
In Utero ◽  
Small Incision Cataract Surgery ◽  
Seckel Syndrome ◽  
Bilateral Cataract ◽  
Small Incision ◽  
Severe Growth

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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