ultrasound diagnosis of fatal anomalies

SMITH–LEMLI–OPITZ SYNDROME
Shprintzen Syndrome (Velocardial Syndrome)
Definition: This is a disorder of malformations
and growth restriction with moderate mental
impairment, cleft palate, typical facial features
and cardiovascular anomalies.
Incidence: Rare.
First described in 1978.
Origin/genetics: Autosomal-dominant inheritance
with variable expression, microdeletion in
chromosome 22 q11.21 –q11.23. An association
with DiGeorge syndrome is possible.
Clinical features: Facial dysmorphism with a
long and narrow face, microgenia, flat protruding
nose, dysplasia of the auricle. Moderate mental
impairment, with difficulty in learning and
behavioral disorder, can be expected. Psychiatric
disorders are diagnosed in 10% of adults. Typical
anomalies are: cleft palate (possibly submucous),
cardiac defects (VSD, tetralogy of Fallot,
and others), and shortening of the long
bones. Other malformations have also been associated
with this syndrome: Pierre Robin
sequence, holoprosencephaly, umbilical hernia,
cryptorchism, and hypospadias.
Ultrasound findings: The diagnosis has been
made at 17 weeks in a case in which a previous
sibling had shown Pierre Robin sequence. Here a
short femur, micrognathia and a VSD were detected.
At 27 weeks, asymmetrical shortening of
the radius and ulna was also diagnosed.
Smith–Lemli–Opitz Syndrome
Definition: This disorder involves small stature
and delayed mental development in the presence
of microcephaly, abnormal facial features,
genital anomalies in the affected males, and
other malformations.
Incidence: One in 20 000 births.
First described in 1964 by Smith.
Origin/genetics: Autosomal-recessive inheritance.
Gene locus 11 q12 –q13, rarely
Differential diagnosis: Triploidy, trisomy 18,
Cornelia de Lange syndrome, EEC syndrome,
Fanconi anemia, femur–fibula–ulna syndrome,
Holt–Oram syndrome, multiple pterygium syndrome,
Neu–Laxova syndrome, Mohr syndrome,
Roberts syndrome, Seckel syndrome, camptomelic
dysplasia, diastrophic dysplasia, TAR
syndrome.
Prognosis: This depends on the severity and
type of cardiac anomaly and mental impairment.
A decrease in muscle tone and speech and hearing
disturbances dominate the clinical picture.
Occasionally, disturbance of T-cell function and
thymus anomalies have been found.
References
Fokstuen S, Vrticka K, Riegel M, Da Silva V, Baumer A,
Schinzel A. Velofacial hypoplasia (Sedlackova syndrome):
a variant of velocardiofacial (Shprintzen)
syndrome and part of the phenotypical spectrum of
del 22q11.2. Eur J Pediatr 2001; 160: 54–7.
Fryer AE. Goldberg–Shprintzen syndrome: report of a
new family and review of the literature [review]. Clin
Dysmorphol 1998; 7: 97–101.
Komatsu H, Kihara A, Komura E, et al. Combined trisomy
9 P and Shprintzen syndrome resulting from a paternal
t(9;22). Genet Couns 2001; 12: 137–43.
Olney AH, Kolodziej P. Velocardiofacial syndrome
(Shprintzen syndrome, chromosome 22 q11 deletion
syndrome) [review]. Ear Nose Throat J 1998; 77: 460–
1.
Robin HN, Shprintzen RJ. The heart and the ear. J Pediatr
1998; 133: 167–8.
Shprintzen RJ. Velocardiofacial syndrome. Otolaryngol
Clin North Am 2000; 33: 1217–40.
Stratton RF, Payne RM. Frontonasal malformation with
tetralogy of Fallot associated with a submicroscopic
deletion of 22 q11. Am J Med Genet 1997; 69: 287–9.
7q32.1. There is a defect in the biosynthesis of
cholesterol. Differentiation into Smith–Lemli–
Opitz types I and type II is questionable; it is
more likely that these represent the same disorder
with varying severity.
Clinical features: Microcephaly, growth restriction.
Facial dysmorphism: blepharophimosis,
ptosis, epicanthus, possibly squint, deep-set
ears, nose resembling an electrical socket, small
tongue, wide alveolar ridges, microgenia. Geni-
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