The Pena‐Shokeir syndrome: Report of five cases and further delineation of the syndrome

Abstract

We report on five cases of lethal Pena-Shokeir syndrome from three families with affected sibs. In addition to multiple anklyoses, camptodactyly, facial anomalies, and pulmonary hypoplasia, one fetus had pterygia of the neck and axillae and cardiac hypoplasia. Radiographic changes are nonspecific and probably are related to a lack of intrauterine movement. Our data and review of the literature suggest that pterygium formation is one of the manifestations of the Pena-Shokeir syndrome. A recently described lethal form of the recessively inherited multiple pterygium syndrome may represent a severe form of the Pena-Shokeir syndrome.

Analysis of Pena Shokeir phenotype

“…The 32 familial cases (Table HI) [Pena and Shokeir, 1974;Pena and Shokeir, 1976;Mease et al, 1976;Chen et al, 1983;Herva et al, 1985;Toriello et al, 1985;MacMillan et al, 1985;Lindhout et al, 19851 published in 16 families deserve a closer look. Assuming each affected family occurs on a single gene basis, these families may help us to distinguish specific entities and causal mechanisms.…”

“…It appears that in conditions with severe pulmonary hypoplasia, such as Jeunes syndrome or diaphragmatic hernia, the lungs will have catch-up growth for many [Punnett et al, 1974, Case 2; Small brain, with diffuse neuronal loss and Lindhout et al, 1985, Case 51 gliosis of the cerebrum, thalamus, brainstem, cerebellum, and spinal cord [Dimmick et al, 19771 Micropolygyria of occipital lobes [Lazjuk et al, 1978, Case 11 Oligogyria and hypoplastic temporal lobe [Lazjuk et al, 1978, Case 21 Hypoplastic optic nerve and chiasma, dilated ventricles [Lazjuk et al, 1978, Case 31 Cortical ectopia in the cerebellum [Chen et al, 1983, Case 11 Cerebellar hypoplasia [Elias et al, 19781 Second and third layer of cerebral cortex with spongiosa changes, calcified vessels, and loss of Purkinje cells in cerebellum [Lindhout et al, 1985, Cases 1,3] Absent septum pellucidum [Lindhout et al, 1985, Case 61 Cavum septum pellucidum [Lazjuk et al, 1978, Case 31 Hydranencephaly [Lindhout et al, 1985, Case 71 Absent olfactory nerves [Lindhout et al, 1985, Case 71…”

“…Craniofacial Short palpebral fissures [Lazjuk et al, Ptosis [Mease et al, 1976, Case 21 Cleft palate [Mease et al, 1976, Case 1;, Case 11 Toriello et al, 1985Moerman et al, 1983, Case 13 Cleft soft palate and cleft lip [Lindhout et al, 1985, Case 41 Long philtrum [Chen et al, 1983, Cases 2,3,41 Choanal atresia [Punnett et al, 1974 [Chen et al, 1983, 19781 Case 21 years after birth, giving the affected individual near normal pulmonary function by late childhood. Individuals with surgical and functional short gut often show sufficient compensatory growth within 4-6 months to allow survival thereafter without hyperalimentation.…”

Pena‐Shokeir phenotype in sibs with macrocephaly but without growth retardation

“…Lindhout et al [1985; patient 11 diagnosed hydramnios in an affected fetus a t 20 weeks. In other cases, early third trimester prenatal ultrasound showed hydramnios, fetal edema, decreased movement, growth retardation, camptodactyly, and absent fetal breathing movements [Chen et al, 1983;Mullen and de Jong, 1986;Lindhout et al, 1985;Shenker et al, 1985;MacMillan et al, 1985;Ohlsson et al, 19881. The prenatal ultrasound evaluation of our patient 2 demonstrated hydramnios and enlarged ureters at 19 weeks.…”

Fetal akinesia and multiple perinatal fractures

“…Thin ribs have been a frequent radiographic finding in newborns who have intrauterine onset neuromuscular disease [Rodriguez et al, 1988a, b;Bell and Smith, 1972;Fried et al, 1975;Chassevent et al, 1978;Osborne et al, 19831. Thin long bones have been described in patients with congenital myotonic dystrophy [Bell and Smith, 19721, centronuclear myopathy [Torres et al, 19851, and spinal cord lesions [Chen et al, 1983;Herva et al, 1985;Miskin et al, 1979;Toriello et al, 19853. Osseous hypoplasia caused by the decrease in mechanical use of the developing bone has been demonstrated experimentally [Pennock et al, 19721 and in infants with neuromuscular diseases [Rodriguez et al, 1988a, b;Hsu, 1982;Neimann et al, 19761. Hypoplastic bones were prone to fracture during delivery and postnatal handling.…”