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Medicine (United States), ISSN 0025-7974, 04/2018, Volume 97, Issue 15
Journal Article
Medicines (Basel, Switzerland), ISSN 2305-6320, 05/2019, Volume 6, Issue 2, p. 60
Leri-Weill dyschondrosteosis (LWD) is a pseudoautosomal form of skeletal dysplasia, characterized by abnormal craniofacial phenotype, short stature, and... 
craniosynostosis | coxa valga | tomography | SHOX gene | deficient ribs number | ischial dysplasia | Leri-Weil dyschondrosteosis
Journal Article
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
The American Journal of Human Genetics, ISSN 0002-9297, 09/2017, Volume 101, Issue 3, pp. 391 - 403
Journal Article
Orthopaedic Surgery, ISSN 1757-7853, 08/2018, Volume 10, Issue 3, pp. 241 - 246
Journal Article
Pediatric Traumatology, Orthopaedics and Reconstructive Surgery, ISSN 2309-3994, 09/2015, Volume 3, Issue 3, pp. 32 - 35
We report on a 3-months old baby of Austrian origin and product of non-consanguineous parents. Abnormal craniofacial contour was the main deformity. The... 
акроцефалосиндактилия | синдром Saethre-Chotzen
Journal Article
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
Journal of the College of Physicians and Surgeons Pakistan, ISSN 1022-386X, 07/2012, Volume 22, Issue 7, pp. 466 - 469
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
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