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Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia, 12/2005
We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal... 
Hypohidrotic ectodermal dysplasia (H E D), subtotal amelia, dysplastic ears
Journal
Massive spinal–ischial dysplasia and extensive spinal dyssygmentation in a Tunisian child with severe form of Cleidocranial dysplasia, 12/2005
Kyphoscoliosis is a complication of some bone dysplasias, including Cleido-cranial dysplasia (CCD). We report on massive spinal dysplasia secondary to severe... 
Cleido cranial, dysplasia, spinal dyssygmentation, defective ossification of the ischium, kyphoscoliosis
Journal
Journal of Clinical Imaging Science, ISSN 2156-7514, 01/2014, Volume 4, Issue 1, p. 53
We report on a female fetus noted to have severe malformative type of skeletal dysplasia on ultrasonography done at 35 weeks gestation. The girl died shortly... 
neonatal death dwarfism | Computed tomog raphy scan | long and short bones deficiency | Grebe dysplasia | Dwarfism | CT imaging | Dysplasia | Patient outcomes | Genetic aspects | Infants | Diagnostic imaging | Genotype & phenotype | Fetuses | Mortality | Fingers & toes | Defects
Journal Article
Orthopaedic Surgery, ISSN 1757-7853, 11/2014, Volume 6, Issue 4, pp. 274 - 279
Journal Article
Medicine (United States), ISSN 0025-7974, 04/2018, Volume 97, Issue 15
Journal Article
Medicine, ISSN 0025-7974, 01/2019, Volume 98, Issue 1, pp. e13780 - e13780
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2017, Volume 101, Issue 3, pp. 391 - 403
Journal Article
Journal Article
Skeletal Radiology, ISSN 0364-2348, 01/2007, Volume 36, Issue 1, p. 89
Journal Article
Journal of clinical medicine research, ISSN 1918-3003, 08/2016, Volume 8, Issue 8, pp. 605 - 609
We studied an unusual combination of severe short stature, mesomelia (Leri-Weill dyschondrosteosis syndrome), and multiple exostosis in several family subjects... 
Exostoses | Mesomelia | No SHOX deletions | Array-CGH-analysis | Short Communication
Journal Article
Orthopaedic Surgery, ISSN 1757-7853, 11/2014, Volume 6, Issue 4, pp. 274 - 279
Objective: Accurate understanding of the cause of the underlying pathology in children with diastrophic dysplasia would help in designing targeted management... 
Plantigrade foot | Diastrophic dysplasia | Complex orthopaedic deformities | 3-DIMENSIONAL CONFIGURATION | KNEE | CHONDRODYSPLASIA PHENOTYPE | GENE | MUTATIONS | ORTHOPEDICS | HIP | CLUB FOOT | Lactates | Dysplasia | Care and treatment | Sulfates | Medical research
Journal Article
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