Pseudotail as a feature of microphthalmia with linear skin defects syndrome

Clinical Dysmorphology

Volumn 20, Issue 2, 2011, Pages 111-113

  Alberry, Medhat S ^a,f   Juvanic, Gordan ^d   Crolla, John ^e   Soothill, Peter ^b   Newbury Ecob, Ruth ^c,g  

^a Fetal Medicine Unit   (United Kingdom)

^b ST MICHAEL'S HOSPITAL   (Canada)

^c BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^d CARDIFF UNIVERSITY   (United Kingdom)

^e WESSEX REGIONAL GENETICS LABORATORY   (United Kingdom)

^f AIN SHAMS UNIVERSITY   (Egypt)

^g ST MICHAEL'S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMNIOCENTESIS; AORTA COARCTATION; ARTICLE; BRAIN VENTRICLE DILATATION; CASE REPORT; CHOREA; CONGENITAL DIAPHRAGM HERNIA; CORPUS CALLOSUM AGENESIS; FEMALE; FETUS; FOLLOW UP; HEART ATRIUM SEPTUM DEFECT; HEART SEPTUM DEFECT; HUMAN; INTESTINE; KARYOTYPE; MICROPHTHALMIA; PREGNANCY; PRIORITY JOURNAL; SKIN DEFECT; STOMACH; TAIL; ULTRASOUND;

ABNORMALITIES, MULTIPLE; ADULT; AORTIC COARCTATION; CESAREAN SECTION; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; FATAL OUTCOME; FEMALE; HEART SEPTAL DEFECTS; HUMANS; INFANT, NEWBORN; LUNG; MICROPHTHALMOS; OBSTETRIC LABOR, PREMATURE; PREGNANCY; SACROCOCCYGEAL REGION; SKIN ABNORMALITIES; SYNDROME;

EID: 79953034473     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328342eb66     Document Type: Article

References (19)

1. Al Gazali LI, Mueller RF, Caine A, Antoniou A, McCartney A, Fitchett M, Dennis NR (1990). An XX male and two t (X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. J Med Genet 25:638-639.
2. Alashari M, Torakawa J (1995). True tail in a newborn. Pediatr Dermatol 12:263-266.
3. Dao A, Netsky M (1984). Human tails and pseudotails. Hum Pathol 15:449-453. (Pubitemid 15163006)
4. Efrat Z, Perri T, Meizner I, Chen R, Ben-Rafael Z, Dekel A (2001). Early sonographic detection of a 'human tail': a case report. Ultrasound Obstet Gynecol 18:534-535. (Pubitemid 33078428)
5. Gajeski B, Kettner N, Awwad E, Boesch R (2003). Neurofibromatosis type I: clinical and imaging features of Von Recklinghausen's disease. J Manipulative Physiol Ther 26:116-127. (Pubitemid 36258852)
6. Garganta C, Bodurtha J (1992). Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature. Am J Med Genet 44:129-135.
7. Grang G, Tantau J, Pannier E, Aubry M, Viot G, Fallet-Bianco C, et al. (2001). Prenatal diagnosis of fetal tail and postabortum anatomical description. Ultrasound Obstet Gynaecol 18:531-533. (Pubitemid 33078427)
8. Kono T, Migita T, Koyama S, Seki I (1999). Another observation of microphthalmia in an XX male:microphthamia with linear skin defects syndrome without skin defects. J Hum Genet 44:63-68. (Pubitemid 29058537)
9. Lapunzina P, Fernández A, Sánchez Romero JM, Delicado A, Sáenz de Pipaon M, López Pajares I, Molano J (2005). A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail. Birth Defects Res A Clin Mol Teratol 73:61-64. (Pubitemid 40165275)
10. Morleo M, Pramparo T, Perone L, Gregato G, Le Caignec C, Mueller RF, et al. (2005). Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. Am J Med Genet A 137:190-198. (Pubitemid 41262687)
11. Muthukumar N (2004). The 'human tail': a rare cause of tethered cord; a case report. Spine 29:476-478.
12. Naritomi K, Izumikawa Y, Nagataki S, Fukushima Y, Wakui K, Niikawa N, Hirayama K (1992). Combined Goltz and Aicardi syndrome in a terminal Xp deletion: are they a contiguous gene deletion? Am J Med Genet 43:839-843.
13. Noacka F, Reuschea E, Gembruchb U (2003). Prenatal diagnosis of 'true tail' with cartilage content. Fetal Diagn Ther 18:226-229.
14. O'Sullivan M, McAllister W, Ball R, Teitelbaum S, Swanson P, Dehner L (1998). Morphologic observations in a case of lethal variant (type I) metatropic dysplasia with atypical features: morphology of lethal metatropic dysplasia. Pediatr Dev Pathol 1:405-412. (Pubitemid 128542155)
15. Ohara K, Nakamura K (1994). Human tail. Br J Plast Surg 47:288-289. (Pubitemid 24190843)
16. Stratton RF, Walter CA, Paulgar BR, Price ME, Moore CM (1998). Second 46, XX male with MLS syndrome. Am J Med Genet 103:51-56.
17. Temple IK, Hurst JA, Hing S, Butler L, Baraitser M (1990). De novo deletion Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia and anterior chamber anomalies. J Med Genet 27:56-58.
18. Wimplinger I, Moreo M, Rosenberger G, Iaoconis D, Orth U, Meinecke P, et al. (2006). Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Am J Hum Genet 79:878-889. (Pubitemid 44763402)
19. Zimmer E, Bronshtein M (1996). Early sonographic findings suggestive of the human fetal tail. Prenat Diagn 16:360-362. (Pubitemid 26154552)