At 4 years old, he presented with a large anterior fontanelle, low-set ears, bushy eyebrows, synophrys, shallow orbit, mild proptosis, hypertelorism
, flat nasal bridge, micrognathia, downslanted palpebral fissures, short neck, stubby fingers, and joint hypermobility [Figure 1]a and [Figure 1]c; and his immunoglobulin E (IgE) increased (no exact data), but without allergic symptom.
On physical examination, she had 4+ tonsils, mild hypertelorism
, and an exophytic, lobulated nasal mass on anterior rhinoscopy.
Macrocephaly, bitemporal flattening, frontal prominence, high arched eyebrows, hypertelorism
, broad nasal bridge, highly arched palate, and dental deformations were present (Picture 1).
Patient has also shallow orbit causing some degree of proptosis and hypertelorism
The physical examination and laboratory findings of the child (hypotonia, hypertelorism
, pes equinovarus, renal cysts, pale optic disc, hypomyelination, epileptiform discharges in EEG, increased levels of VLCFA: C26:0, C24:0/C22:0, C26:0/C22:0) had been supporting ZS but genetic testing wasn't performed.
Multiple telangiectases on face, hypertelorism
and low-set ears were evidenced.
Multiple malformations were present, including hypertelorism
, flat midface, low nasal bridge, short nose, severe arthrogryposis with upper and lower malformations of the limbs and joint contractures, craniosynostosis, microcephaly, and cryptorchidism.
Fetal phenytoin is said to be associated with hypertelorism
, broad nasal bridge, short nose, and facial hirsutism, while fetal CBZ face includes epicanthic folds, short nose, long philtrum, and upward slanting palpebral fissures, as in our patient mentioned above(32-34).
The clinical picture is highly variable, but the major characteristics include hypertelorism
, primary telecanthus, median nasal cleft with a broad nasal root, and a widow's peak hairline [4,10].
17 In the present study Hypertelorism
was seen in 64% while Girinath et al36 reported it 74%, higher than reported in the present study.
Their facial features are coarse, with hypertelorism
, downslanted palpebral fissures and a broad nasal bridge.
This name is the acronym of the words denoting its manifestations: lentigines, electrocardiographic abnormalities, ocular hypertelorism
, pulmonary valve stenosis, abnormal genitalia, retardation of growth, and deafness.