ultrasound diagnosis of fatal anomalies

SKELETAL ANOMALIES
Fig. 8.11 Focal femur hypoplasia. The continuity
of the femur is interrupted in focal femur hypoplasia
at 18 weeks.
ies during the course of pregnancy, and determines
the final femoral length after birth.
Procedure after birth: No specific intervention is
needed immediately after birth. Radiography of
the newborn confirms the diagnosis. Orthopedic
surgery is required at a later stage.
Prognosis: This depends on the associated
anomalies. In an isolated finding, orthopedic
surgery shows a good success.
References
Bohring A, Oppermann HC. A further case of vertical
transmission of proximal femoral focal deficiency?
Am J Med Genet 1997; 71: 194–6.
Court C, Carlioz H. Radiological study of severe proximal
femoral focal deficiency. J Pediatr Orthop 1997; 17:
520–4.
Gonçalves LF, De Luca GR, Vitorello DA, et al. Prenatal diagnosis
of bilateral proximal femoral hypoplasia. Ultrasound
Obstet Gynecol 1996; 8: 127–30.
Gul D, Ozturk H. Unilateral proximal femoral focal deficiency
and Hirschsprung disease. Clin Dysmorphol
2000; 9: 149–50.
Shetty AK, Khubchandani RP. Proximal femoral focal
deficiency (PFFD). Indian J Pediatr 1998; 65: 766–9.
Stormer SV. Proximal femoral focal deficiency [review].
Orthop Nurs 1997; 16: 25–31.
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Hypochondroplasia
Definition: Moderate hyposomia (dwarfism),
with disproportionate shortening of the limbs
(first manifestation may occur even after birth).
There is an increase in head circumference.
Other symptoms include lumbar lordosis and
bowing of the bones of the lower limbs.
First described in 1961 by Lamy and
Maroteaux.
Clinical history/genetics: Autosomal-dominant
inheritance; genetically heterogeneous; gene
locus: 4 p16.3. Gene defect: a mutation in the fibroblast
growth factor receptor-3 gene (FGFR3)
is detected in 60% of the patients. At least one
other gene is known to exist, mutation of which
may also cause hypochondroplasia.
Ultrasound findings: Disproportionate hyposomia
(dwarfism) with shortened extremities.
Clinical management: Further ultrasound
screening, including fetal echocardiography and
karyotyping. Molecular-genetic diagnosis.
Prognosis: The children have a normal life expectancy.
Mental function is not affected.
References
Huggins MJ, Mernagh JR, Steele L, Smith JR, Nowaczyk
MJ. Prenatal sonographic diagnosis of hypochondroplasia
in a high-risk fetus. Am J Med Genet 1999; 87:
226–9.
Huggins MJ, Smith JR, Chun K, Ray PN, Shah JK, Whelan
DT. Achondroplasia–hypochondroplasia complex in
a newborn infant. Am J Med Genet 1999; 84: 396–
400.
Ramaswami U, Rumsby G, Hindmarsh PC, Brook CGD.
Genotype and phenotype in hypochondroplasia. J
Pediatr 1998; 133: 99–102.
Stoilov I, Kilpatrick, MW, Tsipouras P. Possible genetic
heterogeneity in hypochondroplasia [letter]. J Med
Genet 1995; 32: 492–3.
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