PENA-SHOKEIR SYNDROME (PHENOTYPE)

INHERITANCE

• Most cases are sporadic.
• In the occasional familial cases, autosomal recessive inheritance is presumed.

Defects are caused by abnormalities of fetal muscle, nerves or connective tissue.

ULTRASOUND

• Characteristic findings may be detected as early as 16-18 weeks, especially if there is a family history.
• IUGR.
• Fetal akinesia.
• Camptodactyly.
• Clubfeet.
• Knee and hip ankylosis.
• Facial anomalies (probably due to the lack of muscle pull at sites of normal attachment).
• Pulmonary hypoplasia (due to lack of fetal breathing movements from a non functional diaphragm).
• Scoliosis.
• Lordosis.
• Cardiac anomalies.
• Renal dysplasia.
• Short umbilical cord.
• Polyhydramnios.

DIFFERENTIAL DIAGNOSIS

• Lethal multiple pterygium syndrome (LMPS).
• Fetal edema may be found in both but cystic hygroma is more common in LMPS.
• LMPS usually results in fetal rather than perinatal death.
• Pterygia is more common in Pena Shokeir.
• Diaphragmatic hernia and hydranencephaly are more common in LMPS.
• Both commonly have micrognathia and cleft palate.
• Neu-Laxova syndrome.
• Restrictive dermopathy.
• Larsen syndrome.
• Trisomy 13.
• Trisomy 18.
• Potters syndrome-oligohydramnios differentiates it from Pena-Shokeir.

REFERENCES

1. Pena SDJ, Shokeir MHK. Syndrome of camptodactyly, multiple ankylosis, facial anomalies, pulmonary hypoplasia: a lethal condition. J Pediatr 1974;85:373-375.
2. Genkins SM, Hertzberg BS, Bowie JD et.al. Pena-Shokeir type I syndrome: in utero sonographic diagnosis. JCU 1989;17:56-61.
3. Lindhout D, Hagerman G, Beemer FA et.al. The Pena-Shokeir syndrome: report of nine Dutch cases. Am J Med Genet 1985;21:655-668.
4. Horrow MM, Rosenberg HK, Schneider AS et.al. US case of the day. Radiographics 1995;15:726-729.