80 Pena-Shokeir Syndrome
Pena-Shokeir Syndrome 823
Pena-Shokeir syndrome type 1,
Pena-Shokeir phenotype, fetal akinesia deformation sequence, FADS
Intrauterine growth retardation, facial anomalies, multiple congenital joint contractures, short gut, pul- monary hypoplasia, perinatal death (in most cases)
Frequency: Estimated at 1 in 10,000, more than 100 published cases.
Genetics
Heterogeneous, including autosomal recessive (OMIM 208150); most cases are sporadic.
Clinical Features
• Polyhydramnios, short gut, small placenta, short umbilical cord (50% of cases)
• Hydrops fetalis, scalp edema
• Hypertelorism, high nasal bridge, depressed nasal tip, low-set malformed pinnae, microstomia, mi- crognathia (nearly all cases)
• Epicanthal folds (20%)
• High-arched, cleft palate
• Low-set, malformed ears
• Short neck (60%), pterygia of neck and axillae (occasionally)
• Pulmonary hypoplasia
• Congenital heart defects (25%)
• Muscular atrophy
• Cryptorchidism, hypospadias
• Urinary tract anomalies (30%)
• Multiple contractures of large and small joints, camptodactyly, rocker-bottom feet
Differential Diagnosis
• Amyoplasia
• Multiple pterygium syndromes
• Arthrogryposis multiplex congenita
Radiographic Features Joints
• Multiple joint dislocations or subluxations (hip, knee, interphalangeal joints of fingers, etc.)
Extremities
• Slender, gracile, stick-like long bones
• Camptodactyly
• Talipes equinovarus, rocker-bottom feet
• Polydactyly (occasionally) Chest
• Small thorax with thin ribs, pulmonary hypopla- sia
Skull
• Small facial bones, severe micrognathia
• Orbital hypertelorism Generalized Bone Defects
• Thin, gracile bones
• Multiple fractures Spine
• Kyphoscoliosis
• Segmental anomalies of vertebrae
Bibliography
Bisceglia M, Zelante L, Bosman C, Cera R, Dallapiccola B.
Pathologic features in two siblings with the Pena-Shokeir I syndrome. Eur J Pediatr 1987; 146: 283–7
Brueton LA, Huson SM, Cox PM, Shirley I, Thompson EM, Barnes PR, Price J, Newsom-Davis J, Vincent A. Asympto- matic maternal myasthenia as a cause of the Pena-Shokeir phenotype. Am J Med Genet 2000; 92: 1–6
Chen H, Blackburn WR, Wertelecki W. Fetal akinesia and mul- tiple perinatal fractures. Am J Med Genet 1995; 555: 472–7 Erdl R, Schmidtke K, Jakobeit M, Nerlich A, Schramm T. Pena-
Shokeir phenotype with major CNS-malformations: clini- copathological report of two siblings. Clin Genet 1989; 36:
127–35
Hall JG. Analysis of Pena-Shokeir phenotype. Am J Med Genet 1986; 25: 99–117
Houston CS, Shokeir MH. Separating Pena-Shokeir I syn- drome from the “arthrogryposis basket”. J Can Assoc Radi- ol 1981; 32: 215–9
Katzenstein M, Goodman RM. Pre- and postnatal findings in Pena-Shokeir I syndrome: case report and a review of the literature. J Craniofac Genet Dev Biol 1988; 8: 111–26 Pena SD, Shokeir MH. Syndrome of camptodactyly, multiple
ankyloses, facial anomalies and pulmonary hypoplasia–
further delineation and evidence for autosomal recessive inheritance. Birth Defects Orig Artic Ser 1976; 12: 201-8 Takada E, Koyama N, Ogawa Y, Itoyama S, Takashima S. Neuro-
pathology of infant with Pena-Shokeir I syndrome. Pediatr Neurol 1994; 10: 241–3
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Pena-Shokeir Syndrome 824
Fig. 80.1 a–c. Patient 1, at 32 weeks’ gestation. Hypertelorism, depressed nasal bridge, micrognathia, contracted hands and lower limbs, with rocker-bottom feet. (Reprinted, with permis- sion, from Bisceglia et al. 1987)
a
b
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Fig. 80.2 a–c. Patient 2, at 26 weeks’ gestation. Round face, hy- pertelorism, down-slanted palpebral fissures, micrognathia, multiple contractures of large and small joints. (Reprinted, with permission, from Bisceglia et al. 1987)
a
b
c
Pena-Shokeir Syndrome 825
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Fig. 80.3 a, b. Patient 1, at 32 weeks’ gestation. Note poorly ossified calvarium, small skull and facial bones, high palate, orbital hypertelorism, and micrognathia
a b
Fig. 80.4 a, b. Patient 2, at 26 weeks’ gestation. Severe thora- columbar kyphoscoliosis, small thorax with thin ribs, and pulmonary hypoplasia. (Reprinted, with permission, from Bis- ceglia et al. 1987)
a b
Fig. 80.5. Patient 2, at 26 weeks’ gestation. Note left hip dis- location, with malrotation of pelvis
Pena-Shokeir Syndrome 826
Fig. 80.6 a–c. Patient 2, at 26 weeks’ gestation. Ulnar devia- tion of hands, flexion contractures of fingers 2–5 with thumb overlapping, and talipes equinovarus. Note thin, stick-like long bones
a b
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