PMC4443488_01
Brain imaging in Individual 1 from Family 1 (A-C), Individual 2 from Family 1 (D-F), Patient 1 in (G-I) and a normal 3-year-old girl (J-L) including mid-sagital T1-weighted (left column), T2-weighed axial images through the cerebellum (middle column) and T2-weighted axial images through the lateral ventricles (right column). The mid-sagital images show thin and short corpus callosum (boxes in A, D, G), and moderately (A, D) or borderline (G) small cerebellar vermis. The horizontal lines with bullets mark the obex, the lower border of the vermis in most individuals. The low axial images show mildly small cerebellar hemisphere and mildly enlarged 4th ventricle (B, E, H), while the higher axial images show poorly-developed or simplified gyral pattern over the anterior and mid-frontal lobes (C, F, I). The arrows in I point to a few small periventricular nodular heterotopia.
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F1
The cerebellar findings were similar to his brother with a moderately small vermis, mildly small but symmetric hemispheres, and mildly enlarged posterior fossa consistent with mega-cisterna magna (Fig. 1,D-F).
Clinical features of Individual 2 from Family 1 in the neonatal period (A, B) at four weeks (C), and at 3 months of age (D). The images show small ears with prominent antihelices and overfolded superior helices, short palpebral fissures, a broad flat nasal bridge, micrognathia, and 3-4-5 cutaneous syndactyly of the right hand.
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F2
He was noted to have anomalies similar to those seen in his brother including Robin sequence with U-shaped cleft of soft and hard palate, small ears with prominent antihelices and overfolded superior helices (2.5 and 2.7 cm, both <3rd centile), short palpebral fissures, a broad flat nasal bridge, and 2-3 cutaneous toe syndactyly bilaterally and unilateral 4-5 cutaneous toe syndactyly (Fig. 2).
PMC4443488_02
Clinical features of the affected patient from Family 2 at 3 months of age (A,B) and 18 months of age (C,D). He had a sloping forehead, relatively widely spaced eyes, low set and posteriorly rotated ears, and micrognathia.
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F3
On physical exam he had a wide anterior fontanelle, sloping forehead, relatively widely spaced eyes, low set and posteriorly rotated ears, a high arched palate with no cleft, micrognathia, clinodactyly of the fifth fingers, and prominent heels (Fig. 3).
PMC4443488_03
Clinical features of the affected patient from Family 3 at 6 months of age. He had an abnormal hair pattern, wide nasal bridge, underdeveloped supraorbital ridges, sparse eyelashes, and anteverted nares, wide mouth with downturned corners, midface hypoplasia, and micrognathia.
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F4
He had a wide mouth with downturned corners, high arched palate, midface hypoplasia, and severe micrognathia without a cleft palate (Fig. 4).