case_images: PMC10618556_01
case_images: The eyes of the patient (A) The clinical appearance of the eyes. (B) The enlargement around the lower lacrimal tubules. (C) Absence of the upper puncta and closure of lower puncta.
case_images: fgene-14-1150613-g001.jpg
case_images: PMC10618556_01_fgene-14-1150613-g001.jpg
case_images: F1
case_images: Orofacial and mammary glands' features of the patient (A) Facial phenotype of the proband with sparse eyebrows with tattooing, absent eyelashes, small ears, and a hooked nose. (B) Sparse brown hair, especially in the front of her scalp. (C) A hollow facial appearance. (D) Dental abnormalities including hypodontia or oligodontia and conically shaped teeth. (E, F) Absent mammary glands with bilateral hypoplastic nipples.
case_images: fgene-14-1150613-g002.jpg
case_images: PMC10618556_01_fgene-14-1150613-g002.jpg
case_images: F2
case_images: The hands and feet of the patient (A) Bilateral clinodactyly of the fifth finger. (B) Palmar hyperlinearity. (C) Radiograph of the hands showing clinodactyly of the fifth fingers. (D) Dystrophic nail plates and horizontal grooves along the length of the nails. (E) Radiograph of the feet.
case_images: fgene-14-1150613-g003.jpg
case_images: PMC10618556_01_fgene-14-1150613-g003.jpg
case_images: F3
case_images: TP63 mutation analysis A heterozygous G>T transition at cDNA position 518 of the TP63 gene is found in the patient, as well as in her mother and brother.
case_images: fgene-14-1150613-g004.jpg
case_images: PMC10618556_01_fgene-14-1150613-g004.jpg
case_images: F4
case_images: TP63 (accession number: NM_003722; exon4; OMIM number 103285) (Figure 4). This mutation is predicted to result in amino acid substitution p.
case_images: The patient after surgery (A-B) The ocular appearance after surgery. (C) The artificial nasolacrimal duct. (D) The close-up appearance of the opened punctum.
case_images: fgene-14-1150613-g005.jpg
case_images: PMC10618556_01_fgene-14-1150613-g005.jpg
case_images: F5
case_images: The surgery was successful, and the patient showed no lacrimal abnormalities on follow-up (Figure 5).