Pena-Shokeir syndrome's first case report from Syria.

Pena-Shokeir syndrome is considered to be a fatal congenital condition that is rarely diagnosed in neonates. We present the first-ever reported case of Pena-Shokeir syndrome from Syria. Clinical assessment and early prenatal diagnosis are both needed to give the mother and baby more realistic options.

Autistic-Like Traits in Pena-Shokeir Syndrome.

Pena-Shokeir syndrome (PSS) is a rare, early lethal disease. PSS is characterized by fetal growth restriction, craniofacial deformities, multiple ankyloses and pulmonary hypoplasia. Because of the primary concern of physical health problems, psychiatric evaluation is frequently underestimated in PSS patients. Our case report describes a child with PSS who presented with autistic spectrum disorder symptoms.

Discordant monoamniotic twins with Pena-Shokeir phenotype.

Pena-Shokeir phenotype is a rare disorder. However, its etiology is incompletely understood. It may be familial or may be due to anoxic-ischemic etiology. Although rare, it can affect one twin in a monoamniotic pregnancy, most likely due to early cord entanglement.

Otopathologic Findings of Pena-Shokeir Syndrome Type I.

BACKGROUND: Pena-Shokeir syndrome type I is a rare genetic disorder that includes multiple congenital facial and joint anomalies as well as pulmonary hypoplasia. Affected infants are usually premature, and 30% of them are stillborn. So far, studies have reported low-set ears in such infants, with no middle or inner ear findings. METHOD: Histopathological study of human temporal bones with Pena-Shokeir syndrome type I. RESULTS: Our case report describes an infant with severely decreased number of spiral ganglion cells and number of outer and inner hair cells of the cochlea, mild loss of vestibular hair cells, hypoplasia in the facial nerves, and ischemic degeneration of Schwann cells in the modiolus. CONCLUSION: Pena-Shokeir syndrome type I is associated with a degenerative process in the labyrinth.

Prenatal Diagnosis of Arthrogryposis as a Phenotype of Pena-Shokeir Syndrome using Two- and Three-dimensional Ultrasonography.

Pena-Shokeir syndrome is a rare autosomal recessive disease, characterized by facial anomalies, arthrogryposis, polyhydramnios, fetal growth restriction, and pulmonary hypoplasia. This report describes the findings of this anomaly with two and three-dimensional ultrasound in a female in her 28(th) week of pregnancy, who was referred to us because the fetus presented arthrogryposis of unknown cause. These imaging methods allowed adequate evaluation of the fetal malformations and also enabled appropriate counseling of the couple.

Re-visiting the embryogenesis of the human lower lip: an overlooked paradigm.

The rare opportunity to study a human fetus showing bilateral clefting of the lower lip along with other associated anomalies resembling those of the equally rare Pena-Shokeir phenotype prompts this report. The scarcity of reports on bilateral clefts of the lower lip has strengthened the conventional understanding or, perhaps even dogma that the lower lip and jaw develop from the progressive midline merging of just two mandibular prominences in the embryo. On the basis of observations stemming from this case report, it is proposed that yet another developmental event or process (in addition to the midline merging of the mandibular prominences) may be operable in the normal morphogenesis of the lower lip and anterior mandibular region. The bilateral paramedian clefting observed provides evidence that another distinct developmental region, a small medial process complements mandibular morphogenesis.

Aspectos da síndrome de Pena-Shokeir / The aspects of Pena-Shokeir syndrome

O artigo tem por objetivo reunir as principais informações sobre uma patologia rara e pouco conhecida, a Síndrome de Pena-Shoker, com o intuito de despertar o interesse para novos estudos a respeito do desenvolvimento neuro-psico-motor, e de auxiliar na detecção e intervenção precoce desses lactentes. (AU)

The main objective of this paper is to gather information about a rare and seldom studied disease, the Pena-Shokeir syndrome, focusing on developing and providing more information about this grave disease and on increasing the scientific interest in the neuro-pshyco-motor development, so that detection and early intervention for these children can be faster. (AU)

Aspectos da síndrome de Pena-Shokeir / The aspects of Pena-Shokeir syndrome

O artigo tem por objetivo reunir as principais informações sobre uma patologia rara e pouco conhecida, a Síndrome de Pena-Shoker, com o intuito de despertar o interesse para novos estudos a respeito do desenvolvimento neuro-psico-motor, e de auxiliar na detecção e intervenção precoce desses lactentes.

The main objective of this paper is to gather information about a rare and seldom studied disease, the Pena-Shokeir syndrome, focusing on developing and providing more information about this grave disease and on increasing the scientific interest in the neuro-pshyco-motor development, so that detection and early intervention for these children can be faster.

A Case of Pena-Shokeir Phenotype in Trisomy 18 Syndrome

Pena-Shokeir syndrome is a rare, often lethal disease, characterized by intrauterine growth retardation, craniofacial anomalies, limb ankylosis, polyhydramnios and pulmonary hypoplasia. This autosomal recessive disease should be differentiated from trisomy 18, which the second most common multiple congenital malformation syndrome. It is therefore clear that the two syndromes have certain features in common, the most consistent being craniofacial and limb abnormalities and intrathoracic pathology. Therefore, final diagnosis should be based on chromosome study. The case that we experienced had typical Pena-Shokeir phenotype, but chromosomal study show 47, XY, +18.