PMC4043752_01
PMC4043752_02
Frontal view of Patient 1 at age 41 years.. He was originally diagnosed with Dubowitz syndrome (Opitz et al, 1973; Walters and Desposito, 1985). This is the first published photograph of this seminal patient. Exome sequencing identified compound heterozygote mutations in LIG4, confirming the formal diagnosis of LIG4 syndrome. Dysmorphic features include microcephaly (<3rd centile), bilateral downslanted palpebral fissures, low anterior hairline, and a long tubular nose with prominent bulbar tip.
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PMC4043752_02_pone.0098686.g001.jpg
pone-0098686-g001
He had a small mouth (Figures 1 and 2).
Profile view of Patient 1 at age 41 years.. Dysmorphic features include a low posterior hairline, small (<-2 standard deviation), low-set ears and a high nasal bridge.
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PMC4043752_02_pone.0098686.g002.jpg
pone-0098686-g002
He had a small mouth (Figures 1 and 2).
PMC4043752_03
PMC4043752_04
Frontal view of Patient 3 at age 15 years.. He was originally diagnosed with Dubowitz syndrome and was determined to harbor a 3.89 Mb deletion on chromosome 17q24.2. Dysmorphic features include bilateral upslanted palpebral fissures with apparent telecanthus, broad nasal bridge and a bulbous nose.
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PMC4043752_04_pone.0098686.g003.jpg
pone-0098686-g003
His ears were normally formed but somewhat low-set and posteriorly rotated, with a length of 5.5 cm (-1.5 standard deviations); see Figures 3 and 4.
Profile view of Patient 3 at age 15 years.. Dysmorphic features include low set ears.
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PMC4043752_04_pone.0098686.g004.jpg
pone-0098686-g004
His ears were normally formed but somewhat low-set and posteriorly rotated, with a length of 5.5 cm (-1.5 standard deviations); see Figures 3 and 4.
2-3 cutaneous syndactyly and appearance of cutis marmorata telangiectasia congenita in Patient 3.
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PMC4043752_04_pone.0098686.g005.jpg
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Overall, his skin had the appearance of cutis marmorata telangiectasia congenita (Figure 5).