The array result was also confirmed by FISH analysis. The duplicated region harbors only DLX5 and DLX6, which are known for their role in SHFM1. [ncbi.nlm.nih.gov]

Here we show, using two different techniques, FISH and quantitative PCR that SHFM3 is caused by a minimal 325 kb duplication containing only two genes (BTRC and POLL). [archive-ouverte.unige.ch]

At 15 months of age, he was referred to the hospital because of failure to thrive (weight 7200 g, below the 3rd centile; length 70 cm, below the 3rd centile; head circumference 43 cm, below the 3rd centile). [jmg.bmj.com]

Oral examination indicated irregular placement of teeth and a high-arched palate (Fig. 1b). [journals.lww.com]

Ectrodactyly (SHFM or ECC) is a relatively rare (1/90,000 births) congenital genetic (long arm of chromosome7; 7q22 - Arg304 of p63 gene is most commonly seen defect) birth defect with limb malformation involving the central rays of the autopod and presenting [onlinehealthexpert.org]

Ectodermal dysplasia (anomalies of hair, teeth, nails, lacrimal duct and sweat glands, dry skin and sparse hair). Slit hand and foot. Cleft lip or palate (usually bilateral). Anodontia. [fetalultrasound.com]

In adult life, on clinical examination, she had facial asymmetry, and a broad and a prominent nasal root (Fig. 1a). Oral examination indicated irregular placement of teeth and a high-arched palate (Fig. 1b). [journals.lww.com]

We suggest that children with congenital hearing loss and/or meningitis history should be evaluated for inner ear malformations. [journals.lww.com]