Teebi hypertelorism syndrome: Report of a family with previously unrecognized findings

Anne Tsai, Jacqualyn R. Robertson, Ahmad S. Teebi

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

We present a family consisting of a mother, a daughter, and a son with Teebi hypertelorism syndrome, including some previously unrecognized manifestations. The clinical findings include a prominent forehead, arched eyebrows, pronounced hypertelorism, long philtrum, mild interdigital webbing, fifth-finger clinodactyly, umbilical anomalies, and hypotonia. The mother and daughter also had ptosis requiring surgical correction. The daughter has bilateral iridochorioretinal colobomas with high hyperopia and a small umbilical hernia. The son has less striking facial features but was born with a small omphalocele, large ASD secundum, PDA, bilateral cryptorchidism right hydronephrosis, and a cystic left kidney. The mother had an umbilical hernia requiring surgical correction as a child and a history of heart murmur. Both children have normal hearing and mild developmental delay. Their high-resolution karyotypes were normal and the FISH for 22q11 microdeletion was negative in the daughter. We conclude that cardiac defects in Teebi hypertelorism syndrome are not rare findings and that eye colobomas and renal anomalies were previously unrecognized.

Original languageEnglish (US)
Pages (from-to)302-306
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume113
Issue number3
DOIs
StatePublished - Dec 1 2002
Externally publishedYes

Fingerprint

Nuclear Family
Umbilical Hernia
Coloboma
Mothers
Hypertelorism
Cystic Kidney Diseases
Eyebrows
Heart Murmurs
Umbilicus
Muscle Hypotonia
Cryptorchidism
Forehead
Hydronephrosis
Lip
Karyotype
Hearing
Fingers
Brachycephalofrontonasal dysplasia
Kidney

Keywords

  • Coloboma
  • Cystic kidney
  • Hydronephrosis
  • Umbilical hernia

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Teebi hypertelorism syndrome : Report of a family with previously unrecognized findings. / Tsai, Anne; Robertson, Jacqualyn R.; Teebi, Ahmad S.

In: American Journal of Medical Genetics, Vol. 113, No. 3, 01.12.2002, p. 302-306.

Research output: Contribution to journalArticle

Tsai, Anne ; Robertson, Jacqualyn R. ; Teebi, Ahmad S. / Teebi hypertelorism syndrome : Report of a family with previously unrecognized findings. In: American Journal of Medical Genetics. 2002 ; Vol. 113, No. 3. pp. 302-306.
@article{ecf2958512bc4ee1bbba4161c4ffb3f6,
title = "Teebi hypertelorism syndrome: Report of a family with previously unrecognized findings",
abstract = "We present a family consisting of a mother, a daughter, and a son with Teebi hypertelorism syndrome, including some previously unrecognized manifestations. The clinical findings include a prominent forehead, arched eyebrows, pronounced hypertelorism, long philtrum, mild interdigital webbing, fifth-finger clinodactyly, umbilical anomalies, and hypotonia. The mother and daughter also had ptosis requiring surgical correction. The daughter has bilateral iridochorioretinal colobomas with high hyperopia and a small umbilical hernia. The son has less striking facial features but was born with a small omphalocele, large ASD secundum, PDA, bilateral cryptorchidism right hydronephrosis, and a cystic left kidney. The mother had an umbilical hernia requiring surgical correction as a child and a history of heart murmur. Both children have normal hearing and mild developmental delay. Their high-resolution karyotypes were normal and the FISH for 22q11 microdeletion was negative in the daughter. We conclude that cardiac defects in Teebi hypertelorism syndrome are not rare findings and that eye colobomas and renal anomalies were previously unrecognized.",
keywords = "Coloboma, Cystic kidney, Hydronephrosis, Umbilical hernia",
author = "Anne Tsai and Robertson, {Jacqualyn R.} and Teebi, {Ahmad S.}",
year = "2002",
month = "12",
day = "1",
doi = "10.1002/ajmg.10870",
language = "English (US)",
volume = "113",
pages = "302--306",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "3",

}

TY - JOUR

T1 - Teebi hypertelorism syndrome

T2 - Report of a family with previously unrecognized findings

AU - Tsai, Anne

AU - Robertson, Jacqualyn R.

AU - Teebi, Ahmad S.

PY - 2002/12/1

Y1 - 2002/12/1

N2 - We present a family consisting of a mother, a daughter, and a son with Teebi hypertelorism syndrome, including some previously unrecognized manifestations. The clinical findings include a prominent forehead, arched eyebrows, pronounced hypertelorism, long philtrum, mild interdigital webbing, fifth-finger clinodactyly, umbilical anomalies, and hypotonia. The mother and daughter also had ptosis requiring surgical correction. The daughter has bilateral iridochorioretinal colobomas with high hyperopia and a small umbilical hernia. The son has less striking facial features but was born with a small omphalocele, large ASD secundum, PDA, bilateral cryptorchidism right hydronephrosis, and a cystic left kidney. The mother had an umbilical hernia requiring surgical correction as a child and a history of heart murmur. Both children have normal hearing and mild developmental delay. Their high-resolution karyotypes were normal and the FISH for 22q11 microdeletion was negative in the daughter. We conclude that cardiac defects in Teebi hypertelorism syndrome are not rare findings and that eye colobomas and renal anomalies were previously unrecognized.

AB - We present a family consisting of a mother, a daughter, and a son with Teebi hypertelorism syndrome, including some previously unrecognized manifestations. The clinical findings include a prominent forehead, arched eyebrows, pronounced hypertelorism, long philtrum, mild interdigital webbing, fifth-finger clinodactyly, umbilical anomalies, and hypotonia. The mother and daughter also had ptosis requiring surgical correction. The daughter has bilateral iridochorioretinal colobomas with high hyperopia and a small umbilical hernia. The son has less striking facial features but was born with a small omphalocele, large ASD secundum, PDA, bilateral cryptorchidism right hydronephrosis, and a cystic left kidney. The mother had an umbilical hernia requiring surgical correction as a child and a history of heart murmur. Both children have normal hearing and mild developmental delay. Their high-resolution karyotypes were normal and the FISH for 22q11 microdeletion was negative in the daughter. We conclude that cardiac defects in Teebi hypertelorism syndrome are not rare findings and that eye colobomas and renal anomalies were previously unrecognized.

KW - Coloboma

KW - Cystic kidney

KW - Hydronephrosis

KW - Umbilical hernia

UR - http://www.scopus.com/inward/record.url?scp=0036888873&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0036888873&partnerID=8YFLogxK

U2 - 10.1002/ajmg.10870

DO - 10.1002/ajmg.10870

M3 - Article

C2 - 12439902

AN - SCOPUS:0036888873

VL - 113

SP - 302

EP - 306

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 3

ER -