Among other anomalies, children with
Apert syndrome have webbed fingers and toes.
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.
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.