acrocephaly

(redirected from Apert syndrome)
Also found in: Dictionary, Thesaurus, Medical, Wikipedia.
Related to Apert syndrome: Treacher Collins syndrome

acrocephaly

[‚ak·rə′sef·ə·lē]
(medicine)
oxycephaly
Mentioned in ?
References in periodicals archive ?
Among other anomalies, children with Apert syndrome have webbed fingers and toes.
Teen born with 'broken doll' features receives makeup after her face was rebuilt; Kira Yates, 13, from Ulceby, Lincolnshire, had to have her skull "smashed and reshaped" after being born with a rare condition
Apert syndrome occurs as a result of heterozygous missense mutations in the FGFR2 gene.
Two patients with Apert syndrome with different mutations: the importance of early diagnosis
X-ray of skull (Fig.3A) was also typical of apert syndrome and syndactyly of both hands was of type III i.e fusion of all digits like a hoof or rosebud (Fig.3B) by cartilage with one conjoined nail.
Apert Syndrome: Report of a rare congenital malformation
She has Apert syndrome, a rare genetic condition which means she was born with the bones in her hands, feet and skull fused together.
Find a date; Looking for love can be tricky, but add disability to the equation and it can seem almost impossible. Channel Four's The Undateables is back to help
Cranial size and configuration in the Apert syndrome. J Craniofac Genet Dev Biol 1994;14(3):153-62.
Study of cephalic index in vindhya region of Madhya Pradesh
Aside from Pompe disease, other conditions identified include Apert Syndrome, Galactosemia, Homocystinuria, Lowe Syndrome, and Muscular Dystrophy."
Support group meeting challenges for rare diseases
She was born with Apert syndrome. Her skull, fingers and toes fused prematurely.
I had a stroke at 37... it can happen at any age; Colette stages charity night to raise cash and awareness
Of the 16 patients included in the study, 14 presented with single-suture craniosynostosis: 6 involved metopic suture; 5, sagittal suture; and 3, coronal suture.Nine cases were isolated fetal craniosynostosis, three were cases of Apert syndrome, and four also presented with associated CNS and non-CNS anomalies.
Shadowing sign equals fetal craniosynostosis
Here we propose a biologically-oriented extension to this project that involves embryonic phenotyping of the heart and limb of control and mutant littermates of an Apert syndrome mouse model.
Spain-Hearts and limbs: Linking morphometrics with 3D analysis of gene expression patterns project
The brave 11-year-old, who was born with a rare genetic disorder called Apert Syndrome, has spent her life in and out of hospital.
' I've been in hospital over Christmas so I know what it's like.. I just wanted to do something for the kids' 11-YR-OLD HANNAH'S MISSION OF MERCY
The differential diagnosis in this patient included hypothyroidism, rickets, pyknodysostosis, hypophosphatesia, osteogenesis imperfecta, Russell-Silver syndrome, Down's syndrome, and Apert syndrome. These were easily ruled out due to the presence of classical features of CCD and normal hormonal, biochemical, echocardiographic and ultrasonographic results, in addition to the presence of normal IQ.
Cleidocranial dysplasia: a rare cause of disproportionate severe short stature
The change in deviation was more common in Apert syndrome than in Crouzon syndrome and even less frequent in isolated craniofacial syndromes after craniofacial reconstruction operation.
Ocular motility improvement in Crouzon syndrome after neurosurgical intervention without strabismic operation/Crouzon sendromunda strabismus cerrahisi olmaksizin norosirurjik mudahale sonrasi goz hareketlerinde duzelme

Encyclopedia browser ?
Full browser ?