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Table 1 Clinical phenotypes and mutation analysis in seven patients with syndromic short stature

From: Molecular genetic analysis and growth hormone response in patients with syndromic short stature

Patient Year Sex Technique Short stature Intellectual disability Facial dysmorphism Other features Result Diagnosis GH therapy
1. 4–3/12 Female Trio-WES, CNVs + + Strabism Macrocephaly, short limbs, depigmentation, PHPV of right eye FGFR3, NM_000142.4, c.1620C>A (p.N540K)
ZNF687, NM_020832.2, c.2810C>G (p.P937R)
Hypochondroplasia Yes
2. 6 Female Trio-WES, CNVs + + Bilateral asymmetry, café au lait macule, congenital heart disease COL1A2, NM_000089, c.2943+21C>T VUS No
3. 5 Male Trio-WES + Triangle face, facial asymmetry Bilateral asymmetry, hypertonia of left limbs, muscle weakness and atrophy of left limbs, inguinal hernia, obstructive sleep apnoea TRPV4, NM_021625, c.2572C>T (p.Q858X) VUS No
4. 12–9/12 Female Trio-WES, CNVs + + Triangle face Brachydactyly, brachymetacarpia GNAS, NM_080425, c.2288C>T (p.A763V) PHP-Ia Yes
5. 10–7/12 Male Trio-WES + Macrocephaly, hypertelorism, epicanthal folds, anteverted nares, mid-face hypoplasia, thick lips, supernumerary teeth Open fontanelles, drooping shoulders, hypoplastic clavicles, narrow thorax COL11A1, NM_001854.3, c.C5095G (p.L1699V); GLI3, NM_000168.5, c.A4721G (p.K1574R) VUS No
6. 1–3/12 Female Trio-WES + Sparse hair, bulbous tip of the nose Cone-shaped epiphyses, severe eczema TRPS1, NM_014112, c.2527_c.2528dupTA (p.S843fsX72) TRPS I No
7. 2–11/12 Male Trio-WES + 3–5th Distal phalanges hypoplasia of left hand, simian crease, multiple dental caries, depigmentation, eczema Unknown No