Total: 4 |
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PMID (PMCID) | ||
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30233713 (6143868) |
OTHER | |
De novo unbalanced translocation t(15;22)(q26.2;q12) with velo-cardio-facial syndrome: A case report and review of the literature. | ||
Gug C, Huțanu D, Vaida M, Doros G, Popa C, Stroescu R, Furau G, Furau C, Grigorița L, Mozos I. Exp Ther Med. 2018;16(4):3589-3595. |
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The manifestations of the condition observed in the patient included cleft palate with feeding difficulties, respiratory infection, dysmorphic face with almond-shaped eyes, a long and wide nose, small and low-set ears, tetralogy of Fallot, cryptorchidism and varus equinus. | ||
28403078 (5403075) |
MALE | Infant |
Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report. | ||
Nakaya T, Hyuga T, Tanaka Y, Kawai S, Nakai H, Niki T, Tanaka A. Medicine (Baltimore). 2017;96(15):e6499. |
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We observed the following multiple developmental malformations in a 108-day-old male infant during a nephrectomy: a nonfunctioning right kidney with VUR, hemidiaphragmatic eventration, a ventricular septal defect (VSD) with tetralogy of Fallot in the heart, cryptorchidism, and hyperdactylia. | ||
8937767 |
MALE | Adult |
Exclusion of Treacher Collins Franceschetti syndrome in a subject with tetralogy of Fallot and cryptorchidism. | ||
Bruni L, Angeletti B, Pascale E, Tozzi MC, Giammaria P, Verna R, D'Ambrosio E. Clin Genet. 1996;50(2):89-92. |
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Exclusion of Treacher Collins Franceschetti syndrome in a subject with tetralogy of Fallot and cryptorchidism. | ||
8937767 |
MALE | Adult |
Exclusion of Treacher Collins Franceschetti syndrome in a subject with tetralogy of Fallot and cryptorchidism. | ||
Bruni L, Angeletti B, Pascale E, Tozzi MC, Giammaria P, Verna R, D'Ambrosio E. Clin Genet. 1996;50(2):89-92. |
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Genotyping with flanking DNA markers was used to ascertain Treacher Collins Franceschetti syndrome (TCOF1) in a subject affected by tetralogy of Fallot and cryptorchidism. |