Arthrogryposis is especially
prominent in the hands. Arthrogryposis also involves the hips and the
knees. Central and peripheral nervous system abnormalities are present.
Pathologic findings reported in these patients include neurogenic atrophic
muscle changes, and spinal cord and cerebellar histological abnormalities.
Pulmonary hypoplasia results from decreased diaphragmatic motility. Neonates
with Pena-Shokeir I syndrome are premature or small for gestational age.
Pena-Shokeir I syndrome has been considered an autosomal recessive condition
but more likely represents a typical phenotype that occurs as a consequence
of decreased fetal movements at a particular gestational age.
II syndrome, also known as cerebro-ocular-facio-skeletal syndrome, is
characterized by cerebral, ocular, and skeletal abnormalities and characteristic
facial features. The cerebral abnormalities consist of microcephaly, calcification
of the lenticular nuclei, and hemispheric white matter, focal gliosis
of the third ventricle, focal microgyria, and hypoplasia of the optic
tract and chiasm. The ocular abnormalities include cataracts, blepharophimosis,
and microphthalmia. Skeletal abnormalities include camptodactyly, prominent
heels, rocket-bottom feet, and a longitudinal groove on the sole. Arthrogryposis
primarily involves the elbows and knees. Radiographs of the lower extremities
show shallow acetabular angle, coxa valga, posteriorly placed second metatarsal,
and vertical talus. The characteristic facial features are thick scalp
hair, large ears, prominent root of the nose, prominent upper lip that
overlaps the lower lip, and micrognathia. Pena-Shokeir II syndrome is
an autosomal recessive disorder.
trigonocephaly syndrome is characterized by trigonocephaly, upslanting
palpebral fissures, hypoplastic nasal root, wide alveolar ridges, anomalous
and posteriorly angulated ears, loose skin, heart anomaly, and arthrogryposis
(distal). The head size is normal at birth but fails to grow postnatally.
Mental retardation is constant. Opitz trigonocephaly syndrome is possibly
an autosomal recessive disorder. Chromosomal anomalies (especially chromosome
3), Frydman trigonocephaly syndrome, and Say-Meyer trigonocephaly syndrome
need to be excluded.
Figure 159.1— Opitz trigonocephaly syndrome.
[A] trigonocephaly and hypoplastic nasal root; [B] 3-D CT demonstrating
metopic and coronal suture synostosis; [C] CT brain demonstrating abnormal
skull configuration and prominent subarachnoid space.
syndrome is characterized by microcephaly with a narrow frontal area,
slanted or low-set ears, ptosis, anteverted nostrils, cryptorchidism,
and hypospadias. The most important distinguishing features in males are
cryptorchidism and hypospadias.
Figure 159.2.— Smith-Lemli-Opitz syndrome.
[A] extradigit, mild arthrogryposis, and simian crease; [B] cryptorchidism