Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t (2; 4)(q14. 2; q35)

A Corona‐Rivera, JR Corona‐Rivera… - American journal of …, 2000 - Wiley Online Library
A holoprosencephaly, hypertelorism, and ectrodactyly syndrome (HHES) was described in
three previous cases in whom chromosomes were apparently normal. We report on a 3‐year …

Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome.

H Bachman, RD Clark, W Salahi - Journal of medical genetics, 1990 - jmg.bmj.com
We report two fetuses with hydrocephalus, features of holoprosencephaly, and postaxial
polydactyly born to a consanguineous Mexican-American couple. The phenotype is …

Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36

AG Hatziioannou, CM Krauss, MB Lewis… - American journal of …, 1991 - Wiley Online Library
Abstract A familial balanced t (7; 9)(q36; q34) was reported recently. Analysis of the
craniofacial features of 3 of the sibs showed signs of holoprosencephaly. Two ofthe sibs …

Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes

RM Zechi‐Ceide, LA Ribeiro, S Raskin… - American Journal of …, 2009 - Wiley Online Library
We describe a Brazilian boy with semilobar holoprosencephaly, ectrodactyly, bilateral cleft
of lip and palate, and severe mental retardation. The karyotype was normal and the …

Association of holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism: a possible third case

K Imaizumi, T Ishii, M Masuno, Y Kuroki - Clinical Dysmorphology, 1998 - journals.lww.com
Association of holoprosencephaly, ectrodactyly, cleft lip/cl... : Clinical Dysmorphology
Association of holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism: a …

Holoprosencephaly and ectrodactyly: report of three new patients and review of the literature

AA Keaton, BD Solomon, AJ Van Essen… - American Journal of …, 2010 - Wiley Online Library
Holoprosencephaly (HPE) and ectrodactyly represent congenital malformations of the
developing forebrain and developing digits, respectively. The combination of these …

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative …

A Verloes, S Ayme, D Gambarelli… - Journal of medical …, 1991 - jmg.bmj.com
A syndrome of holoprosencephaly and postaxial polydactyly, associated with
hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has …

Pseudotrisomy 13: clinical findings and genetic implications

S Schulz, C Gerloff, T Kalinski, C Mawrin… - Fetal diagnosis and …, 2005 - karger.com
The combination of holoprosencephaly, postaxial polydactyly, and normal karyotype has
been termed pseudotrisomy 13 syndrome. Here, we report the prenatal diagnosis of …

[引用][C] Ectrodactyly in trisomy 13 syndrome

M Urioste, ML Martínez‐Frías… - American journal of …, 1994 - Wiley Online Library
In a recent issue of this journal, Rogers 119941 reported the interesting observation of
ectrodactyly of the left foot in a patient with trisomy 18 syndrome. In the same issue, Lacassie …

Holoprosencephaly, telecanthus and ectrodactyly: a second case

ID Young, JM Zuccollo, M Barrow… - Clinical …, 1992 - journals.lww.com
Holoprosencephaly, telecanthus and ectrodactyly: a second ca... : Clinical Dysmorphology
Holoprosencephaly, telecanthus and ectrodactyly: a second case : Clinical Dysmorphology Log …