PMC3704668_01
Clinical features of cases 2 and 3.. A. Clinical findings of case 2 at 4.5 years of age. Images of the craniofacial region and external genitalia (after surgical intervention) are shown. B. Clinical findings of case 3 at 11 months of age. Multiple facial dysmorphisms and limb anomalies including syndactyly and camptodactyly are shown. Brain magnetic resonance imaging indicates delayed myelination, hypogenesis of the corpus callosum and prominent ventricular and CSF spaces. The parents of cases 2 and 3 have given written informed consent, as outlined in the PLOS consent form, to publication of the photographs of the patients.
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PMC3704668_02_pone.0068194.g002.jpg
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At birth, this patient manifested severe micropenis and hypospadias (Fig. 2). In addition to genital abnormalities, he exhibited multiple anomalies of the fingers and toes, i.e., camptodactyly and flexion contracture of the proximal interphalangeal joint of the right index and left ring fingers, cutaneous syndactyly of the 2nd and 3rd toes and medial deviation of the 4th toe in the right foot, lateral deviation of the 2nd toe and medial deviation the 4th toe in the left foot, and overriding of the 4th toe on the third toe in both feet (Fig. 2). Furthermore, he showed dysmorphic facial features such as ptosis and micrognathia (Fig. 2). Brain magnetic resonance imaging detected delayed myelination, hypogenesis of the corpus callosum, and prominent ventricular and CSF spaces (Fig. 2).
PMC3704668_02
Clinical features of cases 2 and 3.. A. Clinical findings of case 2 at 4.5 years of age. Images of the craniofacial region and external genitalia (after surgical intervention) are shown. B. Clinical findings of case 3 at 11 months of age. Multiple facial dysmorphisms and limb anomalies including syndactyly and camptodactyly are shown. Brain magnetic resonance imaging indicates delayed myelination, hypogenesis of the corpus callosum and prominent ventricular and CSF spaces. The parents of cases 2 and 3 have given written informed consent, as outlined in the PLOS consent form, to publication of the photographs of the patients.
pone.0068194.g002.jpg
PMC3704668_02_pone.0068194.g002.jpg
pone-0068194-g002
At birth, this patient manifested severe micropenis and hypospadias (Fig. 2). In addition to genital abnormalities, he exhibited multiple anomalies of the fingers and toes, i.e., camptodactyly and flexion contracture of the proximal interphalangeal joint of the right index and left ring fingers, cutaneous syndactyly of the 2nd and 3rd toes and medial deviation of the 4th toe in the right foot, lateral deviation of the 2nd toe and medial deviation the 4th toe in the left foot, and overriding of the 4th toe on the third toe in both feet (Fig. 2). Furthermore, he showed dysmorphic facial features such as ptosis and micrognathia (Fig. 2). Brain magnetic resonance imaging detected delayed myelination, hypogenesis of the corpus callosum, and prominent ventricular and CSF spaces (Fig. 2).