FIGURE
Fig. 1
- ID
- ZDB-FIG-230114-9
- Publication
- Gangfuß et al., 2021 - Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement
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Fig. 1
Clinical findings. (A) Family pedigree: I.1 and I.2: healthy, consanguineous parents (cousins I°) of Middle Eastern descent (United Arab Emirates). II.1: first female child, born at 29 weeks of gestation, died 4 days after birth due to unknown cause. II.2: sibling 1, WASHC4 patient 11. II.3: sibling 2, WASHC4 patient 12. (B–I) Clinical phenotype. Sibling 1: (B) Facial dysmorphic features: enlarged and coarsened nasal tip with deviation to the left side, small upper lip vermilion, small eyes with moderate ptosis and mild strabismus, high arched eyebrows, and discreet synophrys. (C) Low-set ears with enlarged ear lobes, and prominent forehead with low-set hairline. (D) Generalized muscle hypotonia. (E) X-ray of thorax in supine position showing bipulmonary infiltrations and right convex scoliosis. (F, G) General hirsutism, predominantly on the back and forearms. Sibling 2: (H, I) Stereotype movements of the hands and facial dysmorphic features: enlarged and coarsened nasal tip with deviation to the right side; small eyes with moderate ptosis and low-set ears. Informed consent to publish photographs was obtained for both patients.
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Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
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Full text @ J. Pathol.