A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies

Temtamy, Samia A.; Meguid, Nagwa A.; Ismail, Samira; Ramzy, Magda

doi:10.1097/00019605-199810000-00003

Cited by 38 publications

(20 citation statements)

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“…Talon cusps have been described in association with dens invaginatus [de Sousa et al, 1999;Lorena et al, 2003], in Ellis-van Creveld syndrome [Hattab et al, 1998], and in Temtamy preaxial brachydactyly syndrome [Temtamy et al, 1998]. Our series reached a 50-70% diagnosis rate for this anomaly.…”

Section: Discussionsupporting

confidence: 49%

Oro‐dental features as useful diagnostic tool in Rubinstein–Taybi syndrome

Bloch‐Zupan

Stachtou

Emmanouil

et al. 2007

American J of Med Genetics Pt A

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Rubinstein–Taybi syndrome (RTS; OMIM # 180849) is a well‐known disorder characterized by mental and growth retardation, broad thumbs and great toes, and unusual facial characteristics. We studied oro‐dental findings in a group of RTS patients: 12 from the UK, 2 from Greece, and 26 from France. All were examined by two investigators, using the Diagnosing Dental Defects Database record form to document these. Various oro‐dental features were found: small mouth, retrognathia, micrognathia, highly arched and narrow palate, talon cusps, expressed crowding, screwdriver incisors, cross bites, and enamel hypoplasia. Eruption was usually normal. Specific attention for these anomalies should facilitate diagnosis and help adequate management. © 2007 Wiley‐Liss, Inc.

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Section: Discussionsupporting

confidence: 49%

Oro‐dental features as useful diagnostic tool in Rubinstein–Taybi syndrome

Bloch‐Zupan

Stachtou

Emmanouil

et al. 2007

American J of Med Genetics Pt A

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“…Desbuquois syndrome is associated with hyperphalangism and joint dislocations (OMIM #251450 and #615777) and is caused by mutations in the CANT1 and XYLT1 genes 8 9. Temtamy hyperphalangism (OMIM #605282) was reported to be caused by mutations in the CHSY1 gene 10 11. These hyperphalangy genes encode enzymes that appear to be involved in proteoglycan synthesis or sulfation.…”

Section: Introductionmentioning

confidence: 99%

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in theERFgene

et al. 2016

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“…), because of the high frequency of consanguinity in Egyptians ranging in various governorates from 27.3% to 46.5% (Temtamy and Aglan ) and even delineation of new, previously unknown disorders, for example, Temtamy preaxial brachydactyly syndrome (Temtamy et al. , ; Li et al. ; Aglan et al.…”

Section: Genetic Disorders Among Egyptiansmentioning

confidence: 99%