Silver-Russel syndrome (SRS) is a rare genetic disorder characterized by prenatal and postnatal growth restriction and a wide spectrum of phenotypic findings (various clinical features).1,2 There is no pathognomonic feature typical of SRS. Due to clinical heterogeneity, SRS might be under- or misdiagnosed.

A 17-year-old female patient was referred for genetic counseling with SRS suspicion because of a short stature, dysmorphic features, and mild intellectual disability. The growth deficiency was treated with growth hormone in the past with no effect. On physical examination her height was 143 cm (below the 3rd percentile), with head circumference at 3rd–10th percentile, broad forehead and high anterior hairline, triangular face, short and narrow palpebral fissures, prominent nasal bridge, hypoplastic alae nasi, thin upper lip, small mandible, and low-set, small ears (Figure 1A). The fingers were short, tapering, fifth fingers showed clinodactyly (Figure 1B). Shortness of right lower extremity was noted. Family history was noncontributory.

Figure 1. Silver-Russel–like syndrome in the 17-year-old patient; A – triangular face; B – short, tapering fingers, fifth finger clinodactyly; Silver-Russel–like syndrome in the 26-year-old patient; C – protruding forehead; D – body disproportion and droopy shoulders

The patient was tested for known causes of SRS, involving genetic and epigenetic abnormalities of chromosome 11p15 and 7. However, the results were normal. Additionally, karyotype and subtelomeric region analyses were performed and no abnormalities were found.

At the age of 26 the patient returned for another genetic consultation. At that time, the adult patient still required the care of her mother. Social withdrawal, moderate intellectual disability, more apparent facial dysmorphic features (Figure 1B and 1C), body dysproportion, droopy shoulders (Figure 1D), and scoliosis were noted. Her height was still below the 3rd percentile and body mass and head circumstance between the 3rd and the 10th percentile. Further genetic tests were performed. In array comparative genomic hybridization (aCGH) analysis 8q11.21-q12.1 deletion of 9.9 Mbp was found [arr 8p11.21q12.1(51 543 169–61 431 815)x1].

Until today, only 2 cases of similar chromosomal abnormality and clinical findings were described. The first was named by Schinzel et al3 as Silver-Russel–like syndrome and the second, described by Kazukawa et al,4 did not refer to SRS. Schinzel et al3 reported an almost 10-year-old girl with a short stature, without body asymmetry and with multiple minor anomalies including microcephaly and some facial feature typical of SRS, as well as below average intelligence. This girl carried an interstitial deletion of 8q11-q13.3

Kazukawa et al4 described an interstitial deletion of chromosome 8q11.2-q13 in an almost 16-year-old boy with a short stature, slight microcephaly, and, according to the authors, without facial dysmorphy but with significant mental retardation.

We compared our case with the cases mentioned above. Although the etiology of approximately 40% of SRS is unknown, in the majority of SRS cases normal intelligence and other recurring features are described, especially intrauterine growth retardation with relatively large head, broad forehead and high anterior line, triangular face with deep-set eyes, downturned corners of the mouth and small mandible, clinodactyly of the fifth fingers, and limb asymmetry.1,2,5

All these led us to a conclusion that our patient suffered from Silver-Russel–like syndrome, and the clinical picture in proximal 8q deletion may vary depending on the size of the deletion.