Chui et al. ||Preiksaitiene et al. ||Pebrel-Richard et al. ||Our patient|
|Duplication region||7p22.1 (5,092,748–6,797,449)|
1.7 Mb in size.
1 Mb in size.
1.5 Mb in size.
1.3 Mb in size.
|Facial characteristics||Open anterior fontanel (20 mm), frontal bossing with a flat, broad, nasal bridge, anteverted nares, ocular hypertelorism, low-set and posteriorly rotated ears with a left preauricular pit, and wide-spaced and pegged teeth.||Low-set and protruding ears, downslanting palpebral fissures, ocular hypertelorism, short nose, anteverted nares, midface hypoplasia, facial asymmetry, severe microretrognathia, high and narrow palate, microstomia, thin vermillion of the lips, and midline pseudocleft upper lip.||Prominent forehead, widely spaced eyes, high-arched eyebrows, downslanted palpebral fissures, anteverted nares, large mouth with thin vermilion, and low-set and small ears with narrow external auditory canals.||Brachycephaly, hypertelorism, prominent lower face, and right ear protruded more than left ear. |
|Presence of developmental delay||Speech delay. No intelligible words at 33 months.||Difficulty in walking and spastic diplegic cerebral palsy. No mention of verbal abilities. ||Few words at 3 years of age. Expressive language impairment was apparently more severe than was receptive language. Could not jump or run and showed slow execution of movements and drawing difficulties.||Poor eye contact and speech delay. Diagnosed with autism spectrum disorder. |
|Other malformations||Mild kyphosis, bilateral bridged palmar creases, broad thumbs, and an undescended left testis.||Tapering fingers, abnormal palmar dermatoglyphic patterns, contractures of the Achilles tendons, scoliosis, short 5th toes.||Undescended testes, joint hypermobility, and flat arches of feet. Gait was unstable.||Undescended right testicle. The right distal palmar crease extends to the 2-3 interspace with a small bridged proximal crease. The left palmar creases bridged to form one.|
|Other tests||Normal head UA, normal thyroid function, bone age of left wrist of 16 months at 24 months; echocardiogram: small patent foramen ovale versus a small and hemodynamically insignificant secundum atrial septal defect (ASD); head CT: asymmetry of the anterior fontanel and slight prominence of the right frontal and left occipital bones with no hydrocephalus.||EEG showed diffuse changes in brain electrical activity and increased stimulation in deep brain structures, predominantly in frontal, temporal, and parietal regions. A CT scan of the brain was remarkable for moderate internal hydrocephalus. Electrocardiogram showed signs of vegetodystonia.||Cranial MRI confirmed suspected moderate hydrocephalus and showed a small corpus callosum. Echoencephalogram showed no abnormalities. Ophthalmic examination identified hypermetropia and astigmatism. Hematological, endocrinology, and metabolic tests were normal. Normal thyroid function. ||Echocardiogram at birth: large patent ductus arteriosus (PDA) with left to right shunt, mild tricuspid regurgitation, and patent foramen ovale with left to right shunt. Right testicle located at right external inguinal ring on US.|
Normal head and renal US.