A case of multiple synostoses syndrome

Tsuruta, Toyoshi; Yamazaki, Masaharu; Yamazaki, Taeko

doi:10.1007/bf01876546

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2005

2022

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Cited by 3 publications

(1 citation statement)

References 7 publications

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“…In that case, the mother’s infant 17a-hydroxyprogesterone intake for abortion was considered unrelated to the CS [19] . In another case of multiple synostoses, including CS, the mother was treated with progesterone injections for atypical genital bleeding [20] . Andley-Bixler syndrome is an entity that encompasses CS and is associated with impaired steroid synthesis and FGFR mutations, whilst some cases possibly have P450 oxidoreductase deficiency and elevation of 17-OH-progesterone levels with normal basal cortisol levels [21] .…”

Section: Discussionmentioning

confidence: 99%

High risk factors for craniosynostosis during pregnancy: A case-control study

Plakas

Anagnostou

PLAKAS

et al. 2022

European Journal of Obstetrics & Gynecology and Reproductiv

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Section: Discussionmentioning

confidence: 99%

High risk factors for craniosynostosis during pregnancy: A case-control study

Plakas

Anagnostou

PLAKAS

et al. 2022

European Journal of Obstetrics & Gynecology and Reproductiv

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Teunissen-Cremers Syndrome: A Clinical, Surgical, and Genetic Report

Weekamp

Kremer²,

Hoefsloot³

et al. 2005

Otology & Neurotology

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The Teunissen-Cremers syndrome is an entity in its clinical presentation, distinct from other syndromes with proximal symphalangism and hearing impairment. So far, in five families with Teunissen-Cremers syndrome, four truncating mutations and one amino acid substitution were found in the NOG gene. The majority of other mutations found in this gene are missense mutations, which might result in some residual protein activity. Reconstructive middle ear surgery is an option for treatment.

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