Body length and weight were below the third
percentile at birth. Craniofacial signs included facial asymmetry with
brachioplagiocephaly, upslanted palpebral fissures, hypertelorism,
blepharophimosis, and epicanthal folds. Magnetic resonance imaging of the
brain showed a semilobar type of holoprosencephaly. Primary craniosynostosis
involving the coronal and lambdoid sutures was present at birth. The hands
and feet were small with clinodactyly of the fifth finger. Generalized
hypotonia may result at least in part from significantly reduced muscle
mass. Severe growth retardation continued to be an issue in infancy, with
body weight and length still below the third percentile. Reexamination at
3 years of age showed persistent skull asymmetry, slender long bones, small
vertebral bodies, coxa valga, hypoplastic terminal phalanges, and
cone-shaped epiphyses of the fingers. The second phalanx of both fifth
fingers were hypoplastic. At 3 years of age, speech was absent, the gait was
unsteady, and the electroencephalogram was normal. The second patient was
diagnosed in utero, and the pregnancy was electively terminated at 21 weeks
of gestation. Basically, the same morphologic findings were found in the fetus.