ultrasound diagnosis of fatal anomalies

LARSEN SYNDROME
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in utero diagnosis of Klippel–Trénaunay–
Weber syndrome. J Ultrasound Med 1991; 10: 111–4.
Meizner I, Rosenak D, Nadjari M, Maor E. Sonographic
diagnosis of Klippel–Trénaunay–Weber syndrome
presenting as a sacrococcygeal mass at 14 to 15
weeks’ gestation. J Ultrasound Med 1994; 13: 901–4.
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Trénaunay syndrome: ultrasonic prenatal diagnosis.
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Monni G. Prenatal sonographic diagnosis of Klippel–
Trénaunay–Weber syndrome with cardiac failure. J
Clin Ultrasound 2001; 29: 422–6.
Larsen Syndrome
Definition: Multiple congenital joint dislocations,
facial dysmorphism, anomalies of the
hand, finger and feet, and anomalies of the spinal
column.
Incidence: Over a hundred cases have been described.
Origin/genetics: A collagen defect has been postulated.
There are autosomal-dominant (gene
locus: 3 p21.1 –p14.1) and autosomal-recessive
forms of inheritance. Girls are more frequently
affected than boys.
Ultrasound findings: Dislocation of the hip, knee
and elbow joints is frequent. Head and face: flat,
square shaped face; deep-set nasal bridge; frontal
bossing, hypertelorism, cleft palate (50%).
Vertebral column and extremities: scoliosis,
spatula-like thumb, stubby fingers, short nails,
short upper limbs, pedes equinovarus or valgus,
short, stubby distal phalanges, short metacarpals.
Thorax: occasionally cardiac defects, tracheomalacia.
In a case with a positive family history,
the diagnosis was made as early as at
16 weeks. The major finding here was hyperextension
of the knee joint. A case has been reported
in which the detection of anomalies on ultrasound
scanning and diagnosis of the fetus led to
confirmation of the diagnosis in the father.
Differential diagnosis: Otopalatodigital syndrome,
Ehlers–Danlos syndrome, Marfan syndrome,
arthrogryposis, diastrophic dysplasia,
Pena–Shokeir syndrome, trisomy 18.
Prognosis: This is variable. Severe physical
handicap may be present due to joint dislocations.
Compression of the spinal cord is also
possible. Mental development is normal.
References
Becker R, Wegner RD, Kunze J, Runkel S, Vogel M, Entezami
M. Clinical variability of Larsen syndrome: diagnosis
in a father after sonographic detection of a
severely affected fetus. Clin Genet 2000; 57: 148–50.
Dören M, Rehder H, Holzgreve W. Prenatal diagnosis
and obstetric management of Larsen’s syndrome in a
patient with an unrecognized family history of the
disease. Gynecol Obstet Invest 1998; 46: 274–8.
Lewit N, Batino S, Groisman GM, Stark H, Bronshtein M.
Early prenatal diagnosis of Larsen’s syndrome by
transvaginal sonography. J Ultrasound Med 1995; 14:
627–9.
Rochelson B, Petrikovsky B, Shmoys S. Prenatal diagnosis
and obstetric management of Larsen syndrome.
Obstet Gynecol 1993; 81: 845–7.
Tongsong T, Wanapirak C, Pongsatha S, Sudasana J. Prenatal
sonographic diagnosis of Larsen syndrome. J
Ultrasound Med 2000; 19: 419–21.
Fig. 11.15 Larsen syndrome. Flattened fetal profile
at 16 + 3 weeks.
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