ultrasound diagnosis of fatal anomalies

MOHR SYNDROME
Prognosis: This is generally unfavorable; severe
mental impairment, growth restriction, and fits
can be expected. About 50% of affected infants
die within the first 6 months of life; the remainder
die in early childhood.
Self-Help Organizations
Title: The Lissencephaly Network
Description: Support for families affected by
lissencephaly or other neuronal migration
disorders, and their families. Helps relieve the
stress of caring for an ill child. Research updates,
newsletter, database of affected
children. Networking of parents.
Description: Networking for families that are
affected by Nager or Miller syndromes. Provides
referrals, library of information, phone
support, newsletter, brochures, scholarships
for Camp About Face.
Scope: International
Founded: 1989
Address: 1827 Grove St., Glenview, IL60025–
2913, United States
Telephone: 1–800–507–3667
Fax: 847–724–6449
E-mail: fnms@interaccess.com
Web: http://www.fnms.net
Scope: International network
Founded: 1991
Address: 10408 Bitterroot Ct., Ft. Wayne, IN
46 804, United States
Telephone: 219–432–4310
Fax: 219–432–4310
E-mail: DianneFitz@aol.com
Web: http://www.lissencephaly.org
Title: Foundation for Nager and Miller Syndromes
Mohr Syndrome (Orofaciodigital Syndrome Type II)
Definition: This is a group of disorders consisting
of postaxial polydactyly of the hands, polysyndactyly
involving the great toe, lapping of the
tongue, hyperplasia of the frenulum, typical facial
expression, growth restriction, and deafness.
First described in 1941 by Mohr.
Origin: Autosomal-recessive inheritance.
Ultrasound findings: Ultrasound scanning
shows postaxial polydactyly, brachydactyly, syndactyly
and clinodactyly of the hands, as well as
doubling of the great toe. Anomalies of the tongue
such as splitting and overlapping, as well as
thickening of the frenulum, are barely recognizable
on scanning. Facial features of the fetus are
References
Chitayat D, Toi A, Babul R, et al. Omphalocele in Miller–
Dieker syndrome: expanding the phenotype. Am J
Med Genet 1997; 69: 293–8.
Kingston HM, Ledbetter DH, Tomlin PI, Gaunt KL. Miller–
Dieker syndrome resulting from rearrangement of a
familial chromosome 17 inversion detected by
fluorescence in situ hybridization. J Med Genet 1996;
33: 69–72.
McGahan JP, Grix A, Gerscovich EO. Prenatal diagnosis
of lissencephaly: Miller–Dieker syndrome. J Clin Ultrasound
1994; 22: 560–3.
van Zelderen-Bhola SL, Breslau-Siderius EJ, Beverstock
GC, et al. Prenatal and postnatal investigation of a
case with Miller–Dieker syndrome due to a familial
cryptic translocation t(17;20) (p13.3;q13.3) detected
by fluorescence in situ hybridization. Prenat Diagn
1997; 17: 173–9.
abnormal: hypertelorism, broad nasal bridge,
occasionally a median upper lip cleft, hypoplasia
of the jaw. Additional cerebral anomalies such as
widening of the ventricles, porencephaly, encephalocele,
agenesis of the corpus callosum
may be evident. Renal anomalies may also occur.
This syndrome has been diagnosed at 21 weeks,
due to detection of hydramnios, hydrocephalus,
microgenia, club feet, and polydactyly.
Other clinical features: Absence of the middle
incisors, raised palate, cleft palate, short or wide
metatarsal.
Differential diagnosis: Orofaciodigital syndrome
type I (only in girls), orofaciodigital syndrome
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