Results 151 to 160 of about 961 (204)

Insight into Apert Syndrome: Reporting on Six Patients and Increasing Awareness. [PDF]

Mol Neurobiol
El-Bassyouni HT, El-Kamah GY, Afifi HH, Taher MB, Soliman DR, Hamed K, Mehrez MI, Amr KS.   +7 more
europepmc   +1 more source

An Adult Case of Crouzon Syndrome: Diagnostic Features and Treatment Modalities. [PDF]

Cureus
Sobouti F, Dadgar S, Salehabadi N, Lotfizadeh A, Mazandarani A, Aryana M.   +5 more
europepmc   +1 more source

Audiological and Subjective Benefits in a Child with Microtia and Atresia After Sequential Bilateral Implantation with Active Bone Conduction Devices: A Case Study. [PDF]

Children (Basel)
Cywka K, Ratuszniak A, Skarżyński PH.
europepmc   +1 more source

FAMILIAL ACROCEPHALOSYNDACTYLY (PFEIFFER SYNDROME)

American Journal of Roentgenology, 1972
A family with acrocephalosyndactyly, which differs from classic Apert’s syndrome, has been described.The autosomal dominant manner of inheritance and the lack of interdigital osseous fusion clearly differentiates it from Apert’s syndrome. Other characteristic features include broad thumbs and great toes, normal intelligence, and only mild soft-tissue ...
R M, Saldino, H L, Steinbach, C J, Epstein   +2 more
exaly   +4 more sources

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Acrocephalosyndactyly (Apert's Syndrome)

JAMA Ophthalmology, 1967
A case of acrocephalosyndactyly in a 63-year-old woman is reported. The intelligence, sex, and racial distribution, hereditary tendency, and chromosomal analysis of acrocephalosyndactyly is discussed. Ocular complications of this syndrome were noted to be mainly optic atrophy, exophthalmos, and strabismus.
M, Seelenfreund, S, Gartner
exaly   +3 more sources

Otologic Manifestations of Acrocephalosyndactyly

JAMA Otolaryngology, 1972
Four patients with Apert's acrocephalosyndactyly were found to have congenital maximum conductive hearing losses. A congenitally fixed stapes footplate and perilymph gusher, suggesting abnormally patent cochlear aqueduct, was found in the ear of one patient, whose mother also had the syndrome. In another young adult Negro patient with stable, long-term
L, Bergstrom, L M, Neblett, W G, Hemenway   +2 more
exaly   +3 more sources

ACROCEPHALOSYNDACTYLY IN SINGAPORE

Journal of Bone and Joint Surgery: British Volume, 1964
1. Five new cases of Apert's syndrome are presented, and the general features of the disease are discussed and correlated with these. The bony changes in the elbow and the delay in ossification are striking. The incidence in Singapore seems to be higher than elsewhere and the patients are all Chinese males. 2. In Singapore the disease is sporadic but
exaly   +2 more sources