Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fragile X syndrome (FXS) is a rare variant of special health-care need demonstrating delayed developmental milestones and associated with intellectual and emotional disabilities ranging from learning problem to mental retardation. The syndrome is usually not diagnosed until 8-9 years of age since the clinical manifestations of the syndrome are greatly attenuated in childhood. The physical characteristics such as facial features, hyperactivity, attention deficit, autistic behavior, and macroorchidism are quite evident in younger age group. The most typical orofacial characteristics associated with children suffering from FXS are mandibular prominence, ogival, and cleft palate. Till date, very few dental literatures have been reported regarding the association of FXS with orodental anomalies. Here, we report a rare case of 14-year-old boy suffering from FXS with typical orofacial characteristics, multiple supernumerary teeth, and dental caries.
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PMID:Fragile X Syndrome: A Rare Case Report with Unusual Oral Features. 2932 22

Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, is an extremely rare autosomal recessive disorder. This study investigated the oral and craniofacial manifestations of a 7-year-old Chinese boy affected by CIPA and identified 2 novel mutations in the NTRK1 gene, and a new feature of the disorder was identified. The patient had typical features, including insensitivity to pain, anhidrosis, and mental retardation; recurrent fractures and osteoporosis also were noted. His oral and craniofacial manifestations included congenital blepharoptosis, a large number of missing teeth, serious tooth abrasion, severe soft tissue injuries, and dental caries. Radiographic examination showed congenital loss of the permanent tooth germs, thin and weak alveolar bone of the mandible, and a fracture of the right mandible. This study extends the spectrum of NTRK1 mutations observed in patients with a diagnosis of CIPA and is the first to propose that congenital loss of permanent teeth may occur in CIPA patients. Furthermore, it highlights the importance of including an oral and maxillofacial surgeon and a pediatric dentist on the multidisciplinary team.
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PMID:Congenital Loss of Permanent Teeth in a Patient With Congenital Insensitivity to Pain With Anhidrosis due to 2 Novel Mutations in the NTRK1 Gene. 3007 36


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