A girl was admitted to the hospital with a prenatal ultrasound test revealing a single umbilical artery with no other malformations. She was born at term, by vaginal delivery after induction due to fetal hypomobility, with a birth weight of 2450&thinsp;g (p&thinsp;&lt;&thinsp;1), birth length of 47&thinsp;cm (p3), and cranial perimeter of 33&thinsp;cm (p10). No perinatal diseases were detected, except for one episode of transient neonatal hypoglycemia. In the neonatal period, no abnormal cry was noticed. She was monitored closely because of postnatal growth retardation in the absence of familial short stature (father&rsquo;s height 180&thinsp;cm, mother&rsquo;s height 158&thinsp;cm). At 22&thinsp;months of age, she was referred for brain magnetic resonance imaging because of neurodevelopmental delay, and Arnold Chiari malformation type I and corpus callosum hypoplasia with mild ventriculomegaly were identified.&nbsp;

Examination

A peculiar face with triangular shape was observed and height (78.5&thinsp;cm, p3) and weight (9.7&thinsp;kg, p7) were still delayed. Generalized hypotonia was still present. Surgery for Arnold Chiari I was performed, and subsequently, her motor development slightly improved. She was referred for clinical genetic assessment and SRS was suspected with a score of 4/6 on the NH-CSS: including IUGR, PNGR, prominent forehead and triangular face. She had a weight of 14.4&thinsp;kg (p7), a height of 99.5&thinsp;cm (p2) and a cranial perimeter of 49&thinsp;cm (p15). Phenotypically, she also presented craniofacial disproportion, wide normal set rotated ears, a triangular face, large eyes and narrow nasal bridge, as well as small feet and hands with quadrangular fingertips. The 5th finger on each hand was shortened without clinodactyly ,the great toe of each foot was wide and she had bilateral diastasis between the first and second toes. She also had a very smooth non-nasal voice.

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