Medicine:Boudhina-Yedes-Khiari syndrome
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| Boudhina-Yedes-Khiari syndrome | |
|---|---|
| Other names | Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions.[1] |
| Specialty | Medical genetics, neurology, dermatology |
| Symptoms | cranial dysmorphisms, epilepsy, short stature, cutaneous lesions and intellectual disabilities |
| Causes | Genetic mutation |
| Prevention | none |
| Frequency | very rare |
Boudhina Yedes Khiari syndrome is a very rare neurocutaneous genetic disorder which is characterized by short stature, microcephaly, intellectual disabilities, tendency to have seizures, hearing loss and skin lesions.[2][3] This disorder was first discovered in the summer of 1990 in Paris, France by T Boudhina et al., when three sisters were described as sharing the symptoms mentioned above, these symptoms were also found to have a high prevalence within their family afterwards. The suspected mode of inheritance is autosomal recessive.[4]
References
- ↑ "Boudhina Yedes Khiari syndrome". 16 June 2022. https://rarediseases.org/gard-rare-disease/boudhina-yedes-khiari-syndrome/.
- ↑ "Boudhina Yedes Khiari syndrome (Concept Id: C2931668) - MedGen - NCBI". https://www.ncbi.nlm.nih.gov/medgen/419467.
- ↑ "Boudhina Yedes Khiari syndrome - Ontology Browser - Rat Genome Database". https://rgd.mcw.edu/rgdweb/ontology/view.html?acc_id=DOID:9005218.
- ↑ Boudhina, T.; Yedes, A.; Khiari, S.; Ghram, N.; Ben Becher, S.; Makni, S.; Ben Jemaa, M.; Hamza, M. (June 1990). "[Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions. A new syndrome"]. Annales de Pédiatrie 37 (6): 399–403. ISSN 0066-2097. PMID 2400194. https://pubmed.ncbi.nlm.nih.gov/2400194/.
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