Co-occurrence of hemiscrotal agenesis with cutis marmorata telangiectatica congenita and hydronephrosis affecting the same side of the body

American Journal of Medical Genetics, Part A

Volumn 164, Issue 1, 2014, Pages 199-203

  Corona Rivera, Jorge Román ^a,b   Acosta León, Jorge ^a   León Hernández, Miguel Ángel ^a   Martínez Macías, Francisco Javier ^b   Bobadilla Morales, Lucina ^a,b   Corona Rivera, Alfredo ^a,b  

^a HOSPITAL CIVIL DE GUADALAJARA FRAY ANTONIO ALCALDE   (Mexico)

^b UNIVERSITY OF GUADALAJARA   (Mexico)

Author keywords

5 reductase; Androgen insensitivity; Congenital scrotal agenesis; Cutis marmorata; Didymosis; Hemiscrotal agenesis; Hydronephrosis; Mosaicism; Vesicoureteral reflux

Indexed keywords

APGAR SCORE; ARTICLE; BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CUTIS MARMORATA TELANGIECTATICA CONGENITA; ECHOGRAPHY; GENETIC ASSOCIATION; HEMISCROTAL AGENESIS; HUMAN; HYDRONEPHROSIS; INFANT; KARYOTYPING; MALE; MALE GENITAL SYSTEM EXAMINATION; MICTURITION CYSTOURETHROGRAPHY; MOSAICISM; ORCHIDOPEXY; PHYSICAL EXAMINATION; PLAGIOCEPHALY; PRIORITY JOURNAL; SCROTUM DISORDER; URETER REIMPLANTATION; VESICOURETERAL REFLUX; CONGENITAL MALFORMATION; NEWBORN; PHENOTYPE; SCROTUM; SKIN DISEASES, VASCULAR; SYNDROME; TELANGIECTASIS;

HUMANS; HYDRONEPHROSIS; INFANT, NEWBORN; MALE; PHENOTYPE; SCROTUM; SKIN DISEASES, VASCULAR; SYNDROME; TELANGIECTASIS;

EID: 84890803371     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36210     Document Type: Article

References (16)

1. Amitai DB, Fichman S, Merlob P, Morad Y, Lapidoth M, Metzker A. 2000. Cutis marmorata telangiectatica congenita: Clinical findings in 85 patients. Pediatr Dermatol 17:100-104.
2. Ben-Amitai D, Merlob P, Metzker A. 2001. Cutis marmorata telangiectatica congenita and hypospadias: Report of 4 cases. J Am Acad Dermatol 45:131-132.
3. Danarti R, Happle R, Konig A. 2001. Paradominant inheritance may explain familial occurrence of cutis marmorata telangiectatica congenita. Dermatology 203:208-211.
4. Del Giudice SM, Nydorf ED. 1986. Cutis marmorata telangiectatica congenita with multiple congenital anomalies. Arch Dermatol 122:1060-1061.
5. Flum AS, Chavlano AH, Kaplan WE. 2012. Hemiscrotal agenesis: New variation in rare anomaly. Urology 79:210-211.
6. Happle R. 1987. Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 16:899-906.
7. Happle R, König A. 2001. Didymosis aplasticosebacea: Coexistence of aplasia cutis congenita and nevus sebaceus may be explained as a twin spot phenomenon. Dermatology 202:246-248.
8. Janoff DM, Skoog SJ. 2005. Congenital scrotal agenesis: Description of a rare anomaly and management strategies. J Urol 173:589-591.
9. Kienast AK, Hoeger PH. 2009. Cutis marmorata telangiectatica congenita: A prospective study of 27 cases and review of the literature with proposal of diagnostic criteria. Clin Exp Dermatol 34:319-323.
10. Mohan PP, Woodward MN, Chandran H, Parashar K. 2006. Topical testosterone in scrotal agenesis. Pediatr Surg Int 22:565-566.
11. Montero M, Méndez R, Tellado M, Vela D, Pais E, Gallego M. 2001. Agenesis of the scrotum. Pediatr Dermatol 18:141-142.
12. Roth DA, Hildesheimer M, Bardenstein S, Goidel D, Reichman B, Maayan-Metzger A, Kuint J. 2008. Preauricular skin tags and ear pits are associated with permanent hearing impairment in newborns. Pediatrics 122:e884-e890.
13. Silay MS, Yesil G, Yildiz K, Kilincaslan H, Ozgen IT, Armagan A. 2013. Congenital agenesis of scrotum and labia majora in siblings. Urology 81:421-423.
14. Verga G, Avolio L. 1996. Agenesis of the scrotum: An extremely rare anomaly. J Urol 156:1467-1467.
15. Wright JE. 1993. Congenital absence of the scrotum: Case report and description of an original technique of construction of a scrotum. J Pediatr Surg 28:264-266.
16. Yilmaz E, Afşarlar CE, Karaman I, Ozgüner IF, Karaman A, Hizli F. 2013. Congenital hemiscrotal agenesis: Report of a rare entity. J Pediatr Urol 9:e76-e77.