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.

Micrognathia

Developmental hypoplasia of the mandible.


Total: 6

                       


(per page)
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.
21148665
 FEMALE Middle Aged
Extensive aneurysms of sinuses of Valsalva precluding valve sparing aortic root reimplantation (David procedure).
Ashoub A, Tang A, Shaktawat S.
Interact Cardiovasc Thorac Surg. 2011;12(3):500-1.
Significant physical findings included dysmorphism with micrognathia and acrocephaly and congenital deafness.
11311002
 MALE
A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay.
Der Kaloustian VM, Pelletier M, Costa T, Blackston DR, Oudjhane K.
Clin Dysmorphol. 2001;10(2):87-93.
We report a 16-year-old boy with multiple craniofacial and skeletal dysmorphic features including brachycephaly, acrocephaly, hypertelorism, wide palpebral fissures, broad nose, anteverted nares, broad columella, long and smooth philtrum, thin upper lip, macrostomia, carp-like mouth, micrognathia, low-set and posteriorly angulated ears with small and abnormal pinnae, a low posterior hairline, a short neck, hypoplastic and widely-spaced nipples, multiple severe pterygia, an umbilical hernia, metatarsus varus, low implantation of the halluces, and delayed motor and language development.
3344780
 FEMALE Infant, Newborn
A new acro-cranio-facial dysostosis syndrome in sisters.
Kaplan P, Plauchu H, Fitch N, Jequier S.
Am J Med Genet. 1988;29(1):95-106.
Two sisters born to consanguineous parents had a syndrome of short stature, acrocephaly, hypertelorism, proptosis, ptosis, down-slanting palpebral fissures, high nose bridge and anteverted nares, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, sensorineural and conductive deafness, proximally placed first toes and digitalized thumbs, bulbous digits, metatarsus adductus, and pectus excavatum.
7273465
 MALE Child
Trisomy 6qter.
Turleau C, de Grouchy J.
Clin Genet. 1981;19(3):202-6.
The main features of the 6qter trisomy syndrome are: severe mental and growth retardation; acrocephaly and brachycephaly; a carp-shaped mouth; micrognathia; a very short neck with unusual anterior webbing; joint contractures; the absence of severe inner organ malformations; and survival into adulthood.
474632
 FEMALE
Duplication 6q syndrome.
Tipton RE, Berns JS, Johnson WE, Wilroy RS Jr, Summitt RL.
Am J Med Genet. 1979;3(4):325-30.
Distinctive features present in all 6 children include microcephaly, acrocephaly, prominent forehead, flat facial profile, depressed nasal bridge, flat malar areas, "carp" mouth, micrognathia and mental retardation.