scholarly journals A Noonan-like short stature syndrome with sparse hair.

1986 ◽  
Vol 23 (2) ◽  
pp. 161-164 ◽  
Author(s):  
M Baraitser ◽  
M A Patton
Keyword(s):  
Short Stature ◽  
Sparse Hair

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.

scholarly journals Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Corina Ramona Nicolescu ◽  
Laura Kasongo ◽  
Léon Rausin
Keyword(s):  
Short Stature ◽  
Early Recognition ◽  
Final Diagnosis ◽  
Biological Evaluation ◽  
Facial Features ◽  
Radiological Findings ◽  
Trichorhinophalangeal Syndrome ◽  
Precise Diagnosis ◽  
Sparse Hair

Trichorhinophalangeal syndrome (TRPS), a type of skeletal dysplasia, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (short stature and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up. A 14-year-old boy presented with short stature and distinctive facial features, and following the first clinical and biological evaluation, no precise diagnosis was reached. Progressive bilateral development of noninflammatory and painless deformity of his second finger required a radiological exam that highlighted the key elements (cone-shaped epiphyses) for final diagnosis. This case illustrates the difficulties to early recognition of TRPS when the clinical presentation is not complete and radiological findings are missing.

Nicolaides–Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion

2021 ◽  
pp. 1-3
Author(s):  
Ross Foley ◽  
Sophie Duignan ◽  
Linda McArdle ◽  
David R. Betts ◽  
Andrew Green ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Genetic Testing ◽  
Hypertrophic Cardiomyopathy ◽  
Short Stature ◽  
Developmental Disorder ◽  
Gene Deletion ◽  
Hypertrophic Obstructive Cardiomyopathy ◽  
Pathogenic Variants ◽  
Novel Association ◽  
Sparse Hair

Abstract Nicolaides–Baraitser syndrome is a rare, neuro-developmental disorder caused by heterozygous pathogenic variants in the SMARCA2 gene, involved with chromatin regulation. Cardinal features include intellectual disability, short stature, microcephaly, triangular facies, sparse hair, brachydactyly, prominent interphalangeal joints and seizures. Genetic testing demonstrated a loss within SMARCA2 at 9p24.3 inclusive of basepairs 2094861_2141830 (hg19) in our patient. This case highlights a child with Nicolaides–Baraiter syndrome, a SMARCA2 gene deletion and a novel association of hypertrophic obstructive cardiomyopathy.

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

Implant Rehabilitation for a Patient With Hallerman-Streiff Syndrome: A Case Report

2009 ◽  
Vol 35 (3) ◽  
pp. 143-147 ◽  
Author(s):  
Behruz J. Abadi ◽  
Joseph E. Van Sickels ◽  
Thomas A. McConnell ◽  
G. Thomas Kluemper
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Orthodontic Treatment ◽  
Dental Treatment ◽  
Genetic Disorder ◽  
Maxillofacial Surgery ◽  
Craniofacial Malformations ◽  
Skin Changes ◽  
Rare Genetic Disorder ◽  
Sparse Hair

Abstract Hallermann-Streiff syndrome is a rare genetic disorder characterized by craniofacial malformations, sparse hair, eye abnormalities, dental defects, degenerative skin changes, and short stature. The syndrome has many implications for dental treatment. Patients typically present with multiple missing and poorly formed teeth. The purpose of this case report is to discuss the overall management of a patient with Hallermann-Streiff syndrome by oral maxillofacial surgery, orthodontic treatment, and prosthodontic reconstruction.

A highly sensitive sandwich enzyme immunoassay of urinary growth hormone in children with short stature, Turner's syndrome, and simple obesity

1989 ◽  
Vol 121 (4) ◽  
pp. 513-519 ◽  
Author(s):  
Hiroshi Tomita ◽  
Masamichi Ogawa ◽  
Takashi Kamijo ◽  
Osamu Mori ◽  
Eiji Ishikawa ◽  
...  
Keyword(s):  
Short Stature ◽  
Enzyme Immunoassay ◽  
Gh Deficiency ◽  
Urine Samples ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Highly Sensitive ◽  
Significant Difference ◽  
Simple Obesity ◽  
Sandwich Enzyme Immunoassay

Abstract. GH values were determined by a highly sensitive sandwich enzyme immunoassay in the 1st morning and/or 24-h accumulated urine samples in 94 children (short stature 70, including 14 with complete GH deficiency, 9 with partial GH deficiency, and 47 with GH-normal short stature; Turner's syndrome, 10, and simple obesity, 14). GH values were also determined in the 2nd to 4th urine samples taken on the same day together with the 1st morning urine in 5 of them. GH values in the 1st morning urine correlated significantly with those of the 24-h urine and with serum peak and mean GH values during nocturnal sleep as a physiological GH secretion test. The 2nd to 4th urines had lower GH concentrations than the 1st morning urine. The GH value of the 1st morning urine in complete GH deficiency was significantly lower than those in GH-normal short stature, partial GH deficiency and Turner's syndrome. However, no significant difference was detected in urinary GH values between complete GH deficiency and simple obesity. We conclude that 1st morning urinary GH estimation may be useful for differentiation of complete GH deficiency from other causes of short stature, but may be difficult for the distinction between complete GH deficiency and obesity with normal GH secretory ability.

Osteogenesis imperfecta and short stature: effect of sclerostin antibody treatment in oim/oim mice

2013 ◽  
Author(s):  
Cardinal Mickael ◽  
Nyssen-Behets Catherine ◽  
Ominsky Mike ◽  
Devogelaer Jean-Pierre ◽  
H Manicourt Daniel
Keyword(s):  
Osteogenesis Imperfecta ◽  
Short Stature ◽  
Antibody Treatment ◽  
Sclerostin Antibody
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