acrocephaly

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Related to Apert syndrome: Treacher Collins syndrome

acrocephaly

[‚ak·rə′sef·ə·lē]
(medicine)
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Apert syndrome occurs as a result of heterozygous missense mutations in the FGFR2 gene.
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.
She has Apert syndrome, a rare genetic condition which means she was born with the bones in her hands, feet and skull fused together.
Cranial size and configuration in the Apert syndrome. J Craniofac Genet Dev Biol 1994;14(3):153-62.
Aside from Pompe disease, other conditions identified include Apert Syndrome, Galactosemia, Homocystinuria, Lowe Syndrome, and Muscular Dystrophy."
She was born with Apert syndrome. Her skull, fingers and toes fused prematurely.
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.
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.
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.
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.
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.