scholarly journals Taurodontia-absent teeth-sparse hair syndrome

2020 ◽  
Author(s):  
Keyword(s):  
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 Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review

2017 ◽  
Vol 06 (04) ◽  
pp. 227-233 ◽  
Author(s):  
Irina Novikova ◽  
Paushpala Sen ◽  
Ann Manzardo ◽  
Merlin Butler
Keyword(s):  
Intellectual Disability ◽  
Male Patient ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Clinical Report ◽  
Intrauterine Growth ◽  
Interstitial Duplication ◽  
Craniofacial Features ◽  
Sparse Hair ◽  
Small Mouth

AbstractWe present a clinical report of an 11-year-old male patient with an interstitial duplication of 19p13.3 (829 kb in size) at genomic coordinates 3,804,495–4,033,722 bp (hg19) identified by chromosomal microarray analysis and review the literature from nine published reports adding knowledge regarding this chromosomal anomaly and clinical outcomes. The size of the duplication ranged from 0.83 to 8.9 Mb in the nine individuals. The young boy in our report was dysmorphic with microcephaly, abnormal craniofacial features, intellectual disability, aggression, and a heart murmur. All patients were found to have a psychomotor developmental delay and/or intellectual disability with the majority having microcephaly, intrauterine growth retardation, and hypotonia. Common craniofacial findings included a tall, prominent forehead, an elongated face, epicanthal folds, hypertelorism, prominent low-set ears, philtrum anomaly, and a small mouth. Other less common features included abnormal digits, sparse hair, and cardiac defects. Clinical features, chromosome duplication sizes, locations, and the number of genes will be summarized in a tabular form.

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

Emergence of a Kwashiorkor-Like Syndrome Associated with Protein-Calorie Malnutrition in the Developing Rhesus Monkey (Macaca Mulatta)

1977 ◽  
Vol 40 (3_suppl) ◽  
pp. 1339-1344
Author(s):  
Charles R. Geist ◽  
Olin W. Smith ◽  
Robert R. Zimmermann ◽  
Enid M. Geist
Keyword(s):  
Rhesus Monkey ◽  
Terminal State ◽  
Deficient Diet ◽  
Dietary Shift ◽  
Protein Calorie Malnutrition ◽  
Low Protein ◽  
The Face ◽  
Protein Deficient Diet ◽  
Dietary Regime ◽  
Sparse Hair

An infant rhesus monkey was separated from its mother at 90 days of age, housed individually, and at 120 days of age placed on a purified low protein diet containing 3.5% casein by weight. To enhance the effects of protein-calorie malnutrition, a protein-deficient diet containing 2.0% casein by weight was introduced at 415 days of age. When compared with other animals on an identical dietary regime, the subject manifested a reduced intake of food and a marked decrease in weight gain. Clinical symptomatology analogous to human kwashiorkor progressively developed into an acute phase as a result of protein deficiency and included: brittle, depigmented, and sparse hair; chronic diarrhea; dermatitis as “flaky-paint rash” on the extremities and “moist groin rash;” edema of the face and extremities; hypoalbuminemia; hypoproteinemia; retardation of growth and physical development; and wasting of muscle tissue. Within 172 days following the dietary shift from 3.5% to 2.0% casein, a terminal state was evidenced.

scholarly journals nm1054: a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse

Blood ◽  
2005 ◽  
Vol 106 (10) ◽  
pp. 3625-3631 ◽  
Author(s):  
Robert S. Ohgami ◽  
Dean R. Campagna ◽  
Brendan Antiochos ◽  
Emily B. Wood ◽  
John J. Sharp ◽  
...  
Keyword(s):  
Iron Deficiency ◽  
Iron Uptake ◽  
Genetic Locus ◽  
Failure To Thrive ◽  
Microcytic Anemia ◽  
Zinc Protoporphyrin ◽  
Hematopoietic Stem ◽  
Hypochromic Microcytic Anemia ◽  
Iron Deficient ◽  
Sparse Hair

AbstractHypochromic, microcytic anemias are typically the result of inadequate hemoglobin production because of globin defects or iron deficiency. Here, we describe the phenotypic characteristics and pathogenesis of a new recessive, hypochromic, microcytic anemia mouse mutant, nm1054. Although the mutation nm1054 is pleiotropic, also resulting in sparse hair, male infertility, failure to thrive, and hydrocephaly, the anemia is the focus of this study. Hematologic analysis reveals a moderately severe, congenital, hypochromic, microcytic anemia, with an elevated red cell zinc protoporphyrin, consistent with functional erythroid iron deficiency. However, serum and tissue iron analyses show that nm1054 animals are not systemically iron deficient. From hematopoietic stem cell transplantation and iron uptake studies in nm1054 reticulocytes, we provide evidence that the nm1054 anemia is due to an intrinsic hematopoietic defect resulting in inefficient transferrin-dependent iron uptake by erythroid precursors. Linkage studies demonstrate that nm1054 maps to a genetic locus not previously implicated in microcytic anemia or iron phenotypes.

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.

scholarly journals Menkes Disease- A Rare Neurodegenerative Disorder

2016 ◽  
Vol 35 (2) ◽  
pp. 177-180
Author(s):  
Richa Choudhary ◽  
Anita Choudhary ◽  
S Sitaraman
Keyword(s):  
White Matter Hyperintensities ◽  
Refractory Epilepsy ◽  
Neurodegenerative Disorder ◽  
Menkes Disease ◽  
Serum Copper ◽  
Progressive Neurodegeneration ◽  
Refractory Seizures ◽  
Sparse Hair ◽  
Pili Torti ◽  
Low Serum

Menkes Disease is a rare neurological disorder of impaired copper transport, characterized by progressive neurodegeneration, refractory epilepsy and characteristic hair abnormalities. Here, we report a 5 month old child with developmental delay, refractory seizures, and hypopigmented short, sparse hair with microscopic pili torti; low serum copper and ceruloplasmin and neuroimaging revealing white matter hyperintensities and tortuous vessels.J Nepal Paediatr Soc 2015;35(2):177-180

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