ultrasound diagnosis of fatal anomalies

WOLF–HIRSCHHORN SYNDROME
Scope: National
Number of groups: 32 chapters
Founded: 1988
Address: 14450 TC Jester, Suite 260, Houston,
TX 77 014, United States
Telephone: 832–249–9988 or 1–800–365–
9944
Fax: 832–249–9987
E-mail: tssus@turner-syndrome-us.org
Web: http://www.turner-syndrome-us.org
Title: Turner Syndrome Support Network
Description: Network and exchange of information
for parents of children with Turner’s
syndrome. Information and referrals, phone
support, pen pals, conferences, literature. Annual
convention. Newsletter ($25/year).
Scope: National
Founded: 1989
Address: c/o MAGIC Foundation, 1327 N. Harlem,
Oak Park, IL 60 302, United States
Telephone: 1–800–3-MAGIC-3 or 708–383–
0808
Fax: 709–383–0899
E-mail: pam@magicfoundation.org
Web: http://www.magicfoundation.org
References
Abir R, Fisch B, Nahum R, Orvieto R, Nitke S, Ben Rafael Z.
Turner’s syndrome and fertility: current status and
possible putative prospects [review]. Hum Reprod
Update 2001; 7: 603–10.
Gilbert B, Yardin C, Briault S, et al. Prenatal diagnosis of
female monozygotic twins discordant for Turner
syndrome: implications for prenatal genetic counselling.
Prenat Diagn 2002; 22: 697–702.
Hall GH, Weston MJ, Campbell DJ. Transitory unilateral
pleural effusion associated with mosaic Turner’s
syndrome. Prenat Diagn 2001; 21: 421–2.
Hartling UB, Hansen BF, Keeling JW, Skovgaard LT, Kjaer
I. Short bi-iliac distance in prenatal Ullrich–Turner
syndrome. Am J Med Genet 2002; 108: 290–4.
Henrion R, Aubry MC, Aubry JP, Emmanuelli CN, Dumez
Y, Oury JR. The antenatal diagnosis of Bonnevie–
Ullrich’s syndrome: the role of ultrasound. J Gynecol
Obstet Biol Reprod (Paris) 1981; 10: 831–7.
Hsu LY. Phenotype/karyotype correlations of Y chromosome
aneuploidy with emphasis on structural aberrations
in postnatally diagnosed cases. Am J Med
Genet 1994; 53: 108–40.
Kohn G, Yarkoni S, Cohen MM. Two conceptions in a
45,X woman. Am J Med Genet 1980; 5: 339–43.
Lustig L, Clarke S, Cunningham G, Schonberg R, Tompkinson
G. California’s experience with low MS-AFP
results. Am J Med Genet 1988; 31: 211–22.
Schröder W. [Hygroma colli in the ultrasound image as
an early indication of fetal Ullrich–Turner syndrome;
in German.] Z Geburtshilfe Perinatol 1990; 194: 283–
5.
Tanriverdi HA, Hendrik HJ, Ertan AK, Axt R, Schmidt W.
Hygroma colli cysticum: prenatal diagnosis and
prognosis. Am J Perinatol 2001; 18: 415–20.
Varela M, Shapira E, Hyman DB. Ullrich–Turner syndrome
in mother and daughter: prenatal diagnosis of
a 46,X,de1(X)(p21) offspring from a 45,X mother
with low-level mosaicism for the del(X)(p21) in one
ovary. Am J Med Genet 1991; 39: 411–2
Weisner D, Fiestas HA, Grote W. [An enlarged neck fold:
a sonographic marker of Down’s syndrome; in German].
Z Geburtshilfe Perinatol 1988; 192: 142–4.
Wolf–Hirschhorn Syndrome (Chromosome 4 p Syndrome)
Definition: A chromosomal aberration characterized
by growth restriction, microcephaly, iris
coloboma, cardiac malformation, restriction of
psychomotor development, and craniofacial
dysmorphism.
Incidence: Rare; only about 150 cases have been
described.
Etiology/genetics: Deletion of part of the short
arm of chromosome 4 p (4 p16.3), mostly of paternal
origin. Cytogenetic examination actually
shows a normal chromosomal finding; a
molecular-genetic test is needed to detect the
deletion. A balanced translocation is present in
10% of parents. If parental chromosomes are
normal, there is no elevated risk of recurrence.
Ultrasound findings: Characteristic findings in
the head and face are: microcephaly, agenesis of
the corpus callosum, asymmetry of the cranium,
hypertelorism, squint, ptosis of the eyelid, iris
coloboma, (in 30%), small, deep-set ears, narrow
external auditory canal, preauricular skin tags,
flat hooked nose, short upper lip ridge, fish
mouth. Intrauterine growth restriction is usually
present. In addition, following anomalies may
also be detected: club feet, cardiac defect, cere-
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