'Pena-Shokeir Syndrome' in a Newborn Male Infant

Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome

“…Unfortunately, no radiographic or histologic findings of the skeletal system were available for further delineation of the syndrome. The case described by Elias et a1 [ 19781 shared many manifestations with patients originally described by Pena and Shokeir [1974] except for the pterygia which, until recently, were not considered a part of the Pena-Shokeir syndrome, [Punnett et al, 1974;Pena and Shokeir, 1976;Mailhes et al, 1977;Houston and Shokeir, 19811. However, recent observations [Chen et al, 19831 of the presence of pterygia in individuals who had had other sibs affected with typical Pena-Shokeir syndrome suggest that pterygia may be a manifestation of that syndrome.…”

Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome

“…Unfortunately, no radiographic or histologic findings of the skeletal system were available for further delineation of the syndrome. The case described by Elias et a1 [ 19781 shared many manifestations with patients originally described by Pena and Shokeir [1974] except for the pterygia which, until recently, were not considered a part of the Pena-Shokeir syndrome, [Punnett et al, 1974;Pena and Shokeir, 1976;Mailhes et al, 1977;Houston and Shokeir, 19811. However, recent observations [Chen et al, 19831 of the presence of pterygia in individuals who had had other sibs affected with typical Pena-Shokeir syndrome suggest that pterygia may be a manifestation of that syndrome.…”

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

“…Recently the Pena-Shokeir syndrome was subdivided into two types [Shokeir, 1982a,b]: type I (formerly known as the Pena-Shokeir syndrome) including multiple anklyoses, camptodactyly, facial anomalies, and pulmonary hypoplasia Shokeir, 1974a, 1976;Punnett et al, 1974;Mease et al, 1976;Dimmick et al, 1977;Mailhes et al, 1977;Lazjuk et al, 1978;Williams et al, 1978;Houston and Shokeir, 198 11; and type 11, formerly known as the cerebro-oculo-facial-skeletal syndrome (COFS) [Pena and Shokeir, 1974b;Pena et al, 1978;Surana et al, 19781. However, a designation of type I and type I1 Pena-Shokeir syndrome may add to confusion.…”

Abnormal fetal muscle forces result in defects in spinal curvature and alterations in vertebral segmentation and shape

“…A complete absence of fetal movement occurs in the rare, neonatal‐lethal syndrome fetal akinesia deformation sequence ([FADS] also known as Pena‐Shokeir syndrome) . A range of spinal abnormalities in FADS cases has been reported and include underdevelopment of vertebral bodies, failure of formation of the cervical vertebrae and abnormalities in spinal curvature . Undiagnosed or mild congenital spinal deformities may also play an important role in adolescent idiopathic scoliosis, as even relatively small changes in curvature can lead to progressive scoliosis, with vertebral body wedging due to asymmetric muscular loading during adolescent growth …”

“…9,10 A range of spinal abnormalities in FADS cases has been reported and include underdevelopment of vertebral bodies, 11 failure of formation of the cervical vertebrae 12 and abnormalities in spinal curvature. 11,[13][14][15][16][17] Undiagnosed or mild congenital spinal deformities may also play an important role in adolescent idiopathic scoliosis, as even relatively small changes in curvature can lead to progressive scoliosis, with vertebral body wedging due to asymmetric muscular loading during adolescent growth. 18 Mechanical stimulation has been shown to play an essential role in multiple aspects of skeletal development (reviewed in Nowlan et al 19 ), with decreased fetal movement leading to abnormal ossification patterns, loss of tissue definition in joint regions, and altered rudiment shape.…”

Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome

“…Unfortunately, no radiographic or histologic findings of the skeletal system were available for further delineation of the syndrome. The case described by Elias et a1 [ 19781 shared many manifestations with patients originally described by Pena and Shokeir [1974] except for the pterygia which, until recently, were not considered a part of the Pena-Shokeir syndrome, [Punnett et al, 1974;Pena and Shokeir, 1976;Mailhes et al, 1977;Houston and Shokeir, 19811. However, recent observations [Chen et al, 19831 of the presence of pterygia in individuals who had had other sibs affected with typical Pena-Shokeir syndrome suggest that pterygia may be a manifestation of that syndrome.…”

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

“…Recently the Pena-Shokeir syndrome was subdivided into two types [Shokeir, 1982a,b]: type I (formerly known as the Pena-Shokeir syndrome) including multiple anklyoses, camptodactyly, facial anomalies, and pulmonary hypoplasia Shokeir, 1974a, 1976;Punnett et al, 1974;Mease et al, 1976;Dimmick et al, 1977;Mailhes et al, 1977;Lazjuk et al, 1978;Williams et al, 1978;Houston and Shokeir, 198 11; and type 11, formerly known as the cerebro-oculo-facial-skeletal syndrome (COFS) [Pena and Shokeir, 1974b;Pena et al, 1978;Surana et al, 19781. However, a designation of type I and type I1 Pena-Shokeir syndrome may add to confusion.…”

Abnormal fetal muscle forces result in defects in spinal curvature and alterations in vertebral segmentation and shape

“…A complete absence of fetal movement occurs in the rare, neonatal‐lethal syndrome fetal akinesia deformation sequence ([FADS] also known as Pena‐Shokeir syndrome) . A range of spinal abnormalities in FADS cases has been reported and include underdevelopment of vertebral bodies, failure of formation of the cervical vertebrae and abnormalities in spinal curvature . Undiagnosed or mild congenital spinal deformities may also play an important role in adolescent idiopathic scoliosis, as even relatively small changes in curvature can lead to progressive scoliosis, with vertebral body wedging due to asymmetric muscular loading during adolescent growth …”

“…9,10 A range of spinal abnormalities in FADS cases has been reported and include underdevelopment of vertebral bodies, 11 failure of formation of the cervical vertebrae 12 and abnormalities in spinal curvature. 11,[13][14][15][16][17] Undiagnosed or mild congenital spinal deformities may also play an important role in adolescent idiopathic scoliosis, as even relatively small changes in curvature can lead to progressive scoliosis, with vertebral body wedging due to asymmetric muscular loading during adolescent growth. 18 Mechanical stimulation has been shown to play an essential role in multiple aspects of skeletal development (reviewed in Nowlan et al 19 ), with decreased fetal movement leading to abnormal ossification patterns, loss of tissue definition in joint regions, and altered rudiment shape.…”

Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of lethal forms of multiple pterygium syndrome

“…Unfortunately, no radiographic or histologic findings of the skeletal system were available for further delineation of the syndrome. The case described by Elias et a1 [ 19781 shared many manifestations with patients originally described by Pena and Shokeir [1974] except for the pterygia which, until recently, were not considered a part of the Pena-Shokeir syndrome, [Punnett et al, 1974;Pena and Shokeir, 1976;Mailhes et al, 1977;Houston and Shokeir, 19811. However, recent observations [Chen et al, 19831 of the presence of pterygia in individuals who had had other sibs affected with typical Pena-Shokeir syndrome suggest that pterygia may be a manifestation of that syndrome.…”

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

“…Recently the Pena-Shokeir syndrome was subdivided into two types [Shokeir, 1982a,b]: type I (formerly known as the Pena-Shokeir syndrome) including multiple anklyoses, camptodactyly, facial anomalies, and pulmonary hypoplasia Shokeir, 1974a, 1976;Punnett et al, 1974;Mease et al, 1976;Dimmick et al, 1977;Mailhes et al, 1977;Lazjuk et al, 1978;Williams et al, 1978;Houston and Shokeir, 198 11; and type 11, formerly known as the cerebro-oculo-facial-skeletal syndrome (COFS) [Pena and Shokeir, 1974b;Pena et al, 1978;Surana et al, 19781. However, a designation of type I and type I1 Pena-Shokeir syndrome may add to confusion.…”

Abnormal fetal muscle forces result in defects in spinal curvature and alterations in vertebral segmentation and shape

“…A complete absence of fetal movement occurs in the rare, neonatal‐lethal syndrome fetal akinesia deformation sequence ([FADS] also known as Pena‐Shokeir syndrome) . A range of spinal abnormalities in FADS cases has been reported and include underdevelopment of vertebral bodies, failure of formation of the cervical vertebrae and abnormalities in spinal curvature . Undiagnosed or mild congenital spinal deformities may also play an important role in adolescent idiopathic scoliosis, as even relatively small changes in curvature can lead to progressive scoliosis, with vertebral body wedging due to asymmetric muscular loading during adolescent growth …”

“…9,10 A range of spinal abnormalities in FADS cases has been reported and include underdevelopment of vertebral bodies, 11 failure of formation of the cervical vertebrae 12 and abnormalities in spinal curvature. 11,[13][14][15][16][17] Undiagnosed or mild congenital spinal deformities may also play an important role in adolescent idiopathic scoliosis, as even relatively small changes in curvature can lead to progressive scoliosis, with vertebral body wedging due to asymmetric muscular loading during adolescent growth. 18 Mechanical stimulation has been shown to play an essential role in multiple aspects of skeletal development (reviewed in Nowlan et al 19 ), with decreased fetal movement leading to abnormal ossification patterns, loss of tissue definition in joint regions, and altered rudiment shape.…”