Dr.Rithwik Sunil, Dr.Sheela Nampoothiri, Dr. C Jayakumar
One month old male child presented with abnormal shape of head since birth. Child also has abnormal fingers and toes.
Antenatal history:
Scans done showed occipital horns of both. Ventricles were dilated
Suspected a variant of holoprosencephaly
Natal: Term /LSCS/3.09kg/CIAB
Due to respiratory distress child was ventilator for 5 days
Examination:
Child is afebrile and alert
Vitals Stable
PICCLE normal
Auxology:
Weight:2.9kg
Height :53cm
Head circumference:33.5cm
Head to toe
AF and PF wide open
Turricephaly
Downward slant of eyes
Hypertelorism
Shallow orbits
Midfacial hypoplasia High Arched near clefting of palate
Flat nasal bridge
Low set dysplastic pinna
B/L complete syndactyly of 1st -5th fingers and toes
1 Cafu au lait macule over left thigh
B/l testis descended
Systemic Examination
CVS:S1 S2 heard, no murmers
CNS: moving all limbs
RS: Chest Clear
GIT: Abdomen soft, no organomegaly
Investigations done:
NSG:Partial fusion of frontal and body of lateral ventricle noted
USG abdomen: Normal
Ophthalmology evaluation for fundus examination: Normal
OAE:Passed
Differentials Considered;
Apert
Achondroplasia
Antley-Bixler syndrome
Beare-Stevenson syndrome
Conditions arising due to mutations of the fibroblast growth factor receptors
Crouzon syndrome
Pfeiffer syndrome
WEhole Exome Sequencing showed mutation in the FGFR2 gene.
This is confirmatory of Aperts Syndrome
Posterior calvarial vault distractor placement and syndactly release of webspaces in hands and legs
Currently on follow up with Neurosurgery
Apert syndrome
It is an autosomal dominant inherited craniosynostosis syndrome.
Males and females are equally affected. The incidence of the disease significantly increases with paternal age and is felt to provide a selective advantage within the male spermatogonial cells.
It is due to gain-of-function missense mutations of fibroblast growth factor receptor (FGFR2)-2 on chromosome 10q.
In cases where the clinical presentation is not clear and no family history to support the diagnosis, additional tests such as advanced imaging techniques can help.
Magnetic resonance imaging (MRI) and computed tomographic (CT) imaging of the brain are used to detect craniosynostosis or other skeletal abnormalities (peri sutural sclerosis, reduced serration, and bony bridging and/or the absence of the suture altogether). These same imaging techniques can be helpful in detecting complications related to the syndrome, such as increased intracranial pressure.
Much like that discussed with Crouzon syndrome, in which there is an unclear diagnosis or the syndrome has atypical features, genetic and molecular testing can be pursued. Unfortunately, the underlying mechanism of multiple craniosynostosis syndromes is related to FGFR mutations and abnormal signaling. Prenatal genetic testing, MRI, and ultrasounds can be utilized to confirm the diagnosis before the birth of the child
Long-term follow-up is essential to reduce the risk of developing complications related to craniosynostosis, such as strabismus, sleep apnea, and elevated intracranial pressure