PubMed · 3918719
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M D Poole, M Briggs, J Rayne, H Cheng. 1985-03-02. Craniofacial surgery.. https://doi.org/10.1136/bmj.290.6469.693
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Acrocephalosyndactyly Type I, or Apert syndrome is a congenital disorder characterized by craniosynostosis and syndactyly. When hearing loss occurs, it is usually bilateral and conductive, often attributable to congenital stapes fixation. In determining treatment, the risk of gusher with stapedectomy becomes an important consideration. We present an adult with Apert syndrome and hearing loss, with particular emphasis on a progressive conductive component in one ear. Surgical exploration failed to reveal any definite middle ear abnormality and no stapedectomy was performed. A theory on the pathogenesis of the conductive loss in our patient follows a brief review of the literature on gusher in patients with ear malformations.
The authors report a case of a female acrocephalosyndactyly with imperforate anus without fistula, which is rare in girls. Acrocephalosyndactyly is characterized by premature closure of the sutures (craniosynostosis) and fusion or webbing of hands and feet (syndactyly). The most general types of the syndrome are the Apert syndrome and the Pfeiffer syndrome. They usually have some fibroblast growth factor receptor (FGFR) gene mutations, so that acrocephalosyndactyly is thought to be involved in "FGFR-related craniosynostosis." To the authors' knowledge, only 4 cases of anorectal anomaly in acrocephalosyndactyly have been reported in the world. The relationship between anorectal anomaly and the FGFR gene is not clear now, but might be clarified in the future.
OBJECTIVE: To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis. DESCRIPTION: The authors describe a newborn with cloverleaf skull, extreme bilateral exorbitism and choanal atresia, partial syndactyly of the second and third toes and broad medially-deviated big toes. The case reported was Pfeiffer Syndrome type 2, which usually has a poor prognosis. COMMENTS: Pfeiffer Syndrome is a clinically variable disorder and consists of an autosomal dominantly-inherited osteochondrodysplasia with craniosynostosis. It has been divided into three types. Type 1 is commonly associated with normal intelligence and generally good outcome. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death and sporadic occurrence. Potential for prolonged useful survival outcome can be achieved in some cases with early aggressive medical and surgical management according to recent literature.