Isolated oxycephaly

Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.

Broad thumb

Increased thumb width without increased dorso-ventral dimension.


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PMID (PMCID)
26349195
 FEMALE Adult
A VARIANT CASE OF 6p24 DELETION SYNDROME (OMIM #612582).
Ergin RN, Cigerciogullari E, Alanay Y, Yayla M.
Genet Couns. 2015;26(2):237-41.
Postmortem morphological examination revealed turricephaly, hypertelorism, depressed nasal bridge, broad nasal tip, left sided cleft lip, low-set small ears, micrognathia, short neck, increased nuchal fold, short broad distal phalanges, broad thumbs, broad halluces and broad toes.
7170223
 MALE
[A case of Pfeiffer syndrome with psychomotor delay. Part I - Physical and X-ray examination and psychomotor assessment. Part II - Notes about surgical treatment of Pfeiffer syndrome and other craniofacial stenosis types].
Ronconi GF, Pesenti P, Cenzi R, Baciliero U, Zanardo V, Curioni C.
Pediatr Med Chir. 1982;4(4):459-66.
This syndrome is characterized by acrocephaly, partial syndactyly of toes, broad thumbs and great toes, with normal intelligence.
7327850
 MALE
Hearing loss in Pfeiffer's syndrome.
Cremers CW.
Int J Pediatr Otorhinolaryngol. 1981;3(4):343-53.
A 14-year-old boy with conduction hearing loss, acrocephaly, minimum syndactyly, broad thumbs and big toes is classified as being affected with a form of acrocephalosyndactyly, termed Pfeiffer's syndrome (McK+10160) [12].