Anesthetic management of a patient with penashokeir i. The fetal akinesia deformation sequence fads refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism vogt et al. Prenatal sonographic diagnosis of penashokeir syndrome type i, or fetal akinesia deformation sequence. Penashokeir phenotype associated with bilateral opercular. It is a lethal autosomal recessive disorder with an estimated prevalence of 1 in 12, 000 births. Penashokeir syndrome, type 1 definition of penashokeir. Pathologic features in two siblings with the penashokeir i. Clinical findings are compared with data on patients from the literature. There were severe contractures at the ankle, hand, fingers, and toes, and moderate.
The penashokeir phenotype represents an autosomal recessive syndrome characterized by neurogenic arthrogryposis, facial anomalies and pulmonary hypoplasia. Prenatal diagnosis of penashokeir syndrome phenotype by ultrasonography and mr imaging. Several reports of prenatal diagnosis of pena shokeir. Treatment pena shokeir syndrome there isnt an actual cure but some specialists to see to help with pena shokeir syndrome are. Two children died antepartum and the third shortly after delivery. Failure to thrive and neurological disorders are criteria for diagnosis, while photosensitivity. Oct 03, 2012 there are quite a few potential underlying causes of fetal akinesia deformation sequence fads. Report of five cases and further delineation of the syndrome. Fetal akinesias may be caused by defects at any point along the motor system pathway including the central and peripheral nervous system, the neuromuscular junction and the muscle, as well as by restrictive dermopathy or external restriction of the fetus in utero. Epidemiology the estimated incidence is at 1 in 12,000 bir. Patients with this syndrome may present anesthetic problems involving difficulties in endotracheal intubation due to micrognathia, cleft palate and neck rigidity, as well as perioperative respiratory complications that relate to hypoplasia of the lung.
Jan 10, 2017 pena shokeir phenotype is a lethal anomaly characterized by neurogenic arthrogryposis, craniofacial anomalies, and pulmonary hypoplasia. Cockayne syndrome genetic and rare diseases information. Pena and shokier identified an early lethal disorder involving multiple joint contractures, facial anomalies, and pulmonary hypoplasia with autosomal recessive mode of inheritance with a frequency of 1 in 12,000 live births. Currently, genetic testing is available for two genes in which mutations have reportedly caused the condition in specific. Antenatal ultrasound and mri findings of penashokeir syndrome 12 october 2010 archives of gynecology and obstetrics, vol. Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia further delineation and evidence for autosomal recessive inheritance. Two siblings whose clinical and pathologic features were consistent with the syndrome of camptodactyly, multiple ankyloses and pulmonary hypoplasia originally described by pena and shokeir were examined at autopsy. A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Anesthetic management of a patient with penashokeir i syndrome. Cs type ii overlaps clinically with the cerebrooculofacioskeletal syndrome cofs, which is also referred to as pena shokeir syndrome type ii.
Meaning of penashokeir syndrome, type 1 medical term. This cited by count includes citations to the following articles in scholar. Penashokeir syndrome type i, associated to klippelfeil syndrome type ii in the same family, rev neurol 2007. Antenatal ultrasonography findings the authors 2017 and. Emphasis is made on genetic background, neuropathological findings. Oct 01, 2000 read pena shokeir type i syndrome with thymic and systemic lymphoid hyperplasia. It is concluded that the pena shokeir syndrome is a heterogeneous syndrome in which cerebral lesions may play an important role in the pathogenesis. Penashokeir syndrome type i, associated to klippelfeil. Penashokeir phenotype psp, also called penashokeir syndrome type 1, is an autosomal recessive inherited disorder with an incidence estimated at one in 12,000 births. Camptodactyly is herein defined as permanent flexion of one or more fingers, and ankylosis as an immobility and consolidation of joints. The pena shokeir syndrome pss is an autosomal recessive nonaneuploidic condition with some clinical features being similar to that of trisomy 18. Cerebrooculofacioskeletal syndrome cofs information page.
A consanguineous family with no living children and three male siblings with penashokeir 1 syndrome is described. Alternative terms for this syndrome used in the literature include fetal hypokinesia syndrome, lethal congenital contracture syndrome, and penashokier syndrome type i. Case report selective fetal reduction in a monochorionic. Looking for online definition of penashokeir syndrome, type 1 in the medical dictionary. The incidence of fads syndrome is 110,000 deliveries and that of kf syndrome is between 5,000 and 142,000 births. The result of a sequence of fetal akinesia or hypokinesia few movements, absence of swallowing and fetal breathing movements, frequent polyhydramnios. Pena shokeir syndrome type i, associated to klippelfeil syndrome type ii in the same family, rev neurol 2007. Penashokeir syndrome is a rare, autosomal recessive disorder first identified by pena and shokeir 1 in 1974. These findings are compared with the data of the 28 cases previously described.
Although trisomy 18 is less common than trisomy 21 it is more lethal. Both siblings presented anomalies in the central nervous system. Preand postnatal findings in penashokeir 1 syndrome. This syndrome should be distinguished from trisomy 18 and arthrogryposis multiplex congenita for better counseling and establishing fetal prognosis. Cockayne syndrome last edited on 19 march 20, at 21.
Reduced fetal activity causes many of the problems. Shokeir syndrome was first described by pena and shokeir in 1974 after observing camptodactily, multiple ankyloses, facial anomalies and lung hypoplasia in 2 siblings. A new mutation in the csb gene in a chinese patient with mild. This syndrome also includes failure to thrive in the newborn, very small head microcephaly, and impaired nervous system development. There are quite a few potential underlying causes of fetal akinesia deformation sequence fads. Fetal akinesia refers to a broad spectrum of disorders in which the unifying feature is a reduction or lack of fetal movement. Syndrome of camptodactyly, ankloses, facial anomalies, and pulmonary hypoplasia penashokeir syndrome. In both, the pregnancies were characterized by polyhydramnios and hypokinesia. Sometimes the cause is unknown, sometimes the cause is known and is not genetic, and other times although a genetic cause may be suspected, genetic testing may not be available. Manschot 2 and christina vermeulenmeiners 2 departments of obstetrics and gynecology and pathology, ziekenhuis centrum. Current management strategies and palliative care article pdf available in the application of clinical genetics volume 11. The macroscopic and microscopic features, the medical history, the course of the disease and the phenotype of the twin a suggest the diagnosis. Fetal akinesia deformation sequence genetic and rare.
It shows phenotypic overlap with the lethal form of multiple pterygium syndrome see. The ones marked may be different from the article in the profile. Report of an autopsy case, human pathology on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Pena shokeir syndrome phenotype is characterized by neurogenic arthrogryposis, facial anomalies, polyhydramnios and lung hypoplasia. Introduction penashokeir syndrome fetal akinesia deformation sequence, fads is an autosomal recessive lethal disorder characterized by combination of abnormal limb position, facial anomalies micrognathia, camptodactyly, restrictive fetal movement with reduced or absent response to acoustic stimulation, growth restriction, polyhydramnios, and pulmonary hypoplasia. Etiology the pena shokeir syndrome is not a unitary entity but is etiologically heterogeneous. Symptoms are present at birth and normal brain development stops after birth. We report an additional similar case of an infant who was initially suspected of having trisomy 18 syndrome, but who was subsequently found to possess those characteristics of the penashokeir syndrome. Dec 16, 2002 the penashokeir phenotype represents an autosomal recessive syndrome characterized by neurogenic arthrogryposis, facial anomalies and pulmonary hypoplasia. Oct 25, 2018 penashokeir syndrome pss type 1, also known as fetal akinesia deformation sequence, is a rare genetic syndrome that almost always results in intrauterine or early neonatal death. Analysis of pena shokeir phenotype, american journal of. Syndrome of camptodactyly, ankloses, facial anomalies, and pulmonary hypoplasia pena shokeir syndrome. Omim entry 300073 fetal akinesia syndrome, xlinked. The penashokeir syndrome pss is an autosomal recessive nonaneuploidic condition with some clinical features being similar to that of trisomy 18.
Read analysis of pena shokeir phenotype, american journal of medical genetics part a on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Penashokeir syndrome, compared with the diagnostic possibilities available by ultrasound, demonstrating the importance of detailed prenatal scan to do syndromic diagnosis, not only systemically. It is characterized by markedly decreased fetal movements, intrauterine growth restriction, joint contractures, short umbilical cord, and features of pulmonary. Mim 208150, 300073 fetal akinesia sequence, arthrogryposis multiplex congenita pulmonary hypoplasia very rare. In 1974, pena and shokeir first described this lethal autosomal recessive syndrome characterized by arthrogryposis, camptodactyly, facial anomalies and pulmonary hypoplasia in two siblings. Cockayne syndrome cs, also called neilldingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight photosensitivity, eye disorders and premature aging. Antenatal ultrasonography findings and magnetic resonance.
Pena shokeir syndrome is a rare, autosomal recessive disorder first identified by pena and shokeir 1 in 1974. We report on five cases of lethal penashokeir syndrome from three families with affected sibs. Pena shokeir syndrome pss type 1, also known as fetal akinesia deformation sequence, is a rare genetic syndrome that almost always results in intrauterine or early neonatal death. We report a case of penashokeir type i syndrome in a female neonate who died of respiratory failure shortly after the birth at 32 weeks of gestation.
Prenatal us is crucial in showing pena shokeir syndrome phenotype in addition to demonstrating reduced fetal movements or akinesia as an underlying aetiological factor as early as the 14th week of gestation. It is rare, involving degeneration of the brain and. The etiology for the early cases was attributed to neuromuscular disease, with deformations. Sherer dm, nawrocki mn, abramowicz js, peco ne, woods jr jr. Tonicclonic seizures in a fetus with penashokeir syndrome. In addition to multiple anklyoses, camptodactyly, facial anomalies, and pulmonary hypoplasia, one fetus had pterygia of the neck and axillae and cardiac hypoplasia.
Penashokeir syndrome fetal akinesia deformation sequence, fads is an autosomal recessive lethal disorder characterized by combination of abnormal limb position, facial anomalies micrognathia, camptodactyly, restrictive fetal movement with reduced or absent response to acoustic stimulation, growth restriction, polyhydramnios, and pulmonary hypoplasia. Pena shokeir syndrome pss is an autosomal recessive non aneuploidic condition with some clinical features being similar to that of trisomy 18, the condition is most often lethal, and the estimated incidence was 1 in 12,000 births. Prenatal diagnosis of penashokeir syndrome phenotype by. Penashokier phenotype is an early lethal disorder involving multiple joint contractures, facial anomalies, and pulmonary hypoplasia. A 7monthold boy with pena shokeir syndrome i underwent surgery under general anesthesia for the correction of inguinal hernia. Congenital cataracts or other structural anomalies of the eye may be present. Pena shokier phenotype is an early lethal disorder involving multiple joint contractures, facial anomalies, and pulmonary hypoplasia. Syndrome of camptodactyly, ankloses, facial anomalies, and pulmonary hypoplasia pena.
Pena shokeir syndrome is an inherited disorder characterized by neurogenic arthrogryposis, facial anomalies, pulmonary hypoplasia and dysmorphic features resulting from fetal akinesia. Penashokeir syndrome pss is an autosomal recessive non aneuploidic condition with some clinical features being similar to that of trisomy 18, the condition is most often lethal, and the estimated incidence was 1 in 12,000 births. A 7monthold boy with penashokeir syndrome i underwent surgery under general anesthesia for the correction of inguinal hernia. Prenatal diagnosis of this disease has been reported prospectively and in cases with positive family history. References chen h, blumberg b, immken l, lachman r, rightmire d, fowler m, bachman r, beemer fa 1983. Many of these babies are born prematurely, and even when born at term their growth is delayed, they have a short neck and cryptorchidism. Penashokeir syndrome type ii is caused by mutations in complementation genes 2 and 6. Reynolds, prenatal ultrasonographic features of the penashokeir i syndrome and the trisomy 18 syndrome, american journal of medical genetics, 25, 1, 119129, 2005. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. We report an additional similar case of an infant who was initially suspected of having trisomy 18 syndrome, but who was subsequently found to possess those characteristics of the pena shokeir syndrome.
Bilateral opercular polymicrogyria previously has been linked to the developmental form of foixchavanymarie syndrome, or faciopharyngoglossomasticatory diplegia. Pena shokeir syndrome information including symptoms, causes, diseases, symptoms, treatments, and other medical and health issues. It is characterised by foetal akinesiahypokinesia, intrauterine growth restriction, arthrogryposis contractures of the joints, various craniofacial anomalies micrognathia, microphthalmia, cataracts or microcephaly, camptodactyly. Fetal akinesia deformation sequence fads is a condition characterized by. Penashokeir phenotype psp, also called pena shokeir syndrome type 1, is an autosomal recessive inherited disorder with an incidence estimated at one in 12,000 births. Penashokeir syndrome in a newborn male infant jama. Additional features were intrauterine growth retardation, immaturity of the central nervous system cns and atrophy of skeletal muscles. One sib died at 11 weeks of age and other sib was stillborn. Anesthesia management of a newborn with penashokeir syndrome. Meaning of penashokeir syndrome, type i medical term. Looking for online definition of penashokeir syndrome, type i in the medical dictionary.
Sep 07, 2017 cockayne syndrome type 2 type b, also known as cerebrooculofacioskeletal cofs syndrome or pena shokeir syndrome type ii, is the most severe subtype. Cs type ii overlaps clinically with the cerebrooculofacioskeletal syndrome cofs, which is also referred to as penashokeir syndrome type ii. These surgeries usually exist out of tendon transfers and skin flap movements, adjusted to the individual. Neuropathology of infant with penashokeir 1 syndrome. It was first described by pena and shokeir in 1974 and was subsequently included among the phenotypes associated with fetal akinesia deformation.
Pena shokeir syndrome, compared with the diagnostic possibilities available by ultrasound, demonstrating the importance of detailed prenatal scan to do syndromic diagnosis, not only systemically. Anesthetic management of three pediatric cases with penashokeir syndrome. It is characterized by markedly decreased fetal movements, intrauterine. Lethal penashokeir 1 syndrome in three male siblings. Death usually occurs by the age of 5 years but patients with milder forms may survive beyond childhood. Cerebrooculofacioskeletal syndrome cofs is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. More detailed information about the symptoms, causes, and treatments of pena shokeir syndrome, type 1 is available below. Treatments for pena shokeir syndrome, type 1 including drugs, prescription medications, alternative treatments, surgery, and lifestyle changes.
Penashokeir syndrome pss type 1, also known as fetal akinesia deformation sequence, is a rare genetic syndrome that almost always results in intrauterine or early neonatal death. Alternative terms for this syndrome used in the literature include fetal hypokinesia syndrome, lethal congenital contracture syndrome, and pena shokier syndrome type i. Fetal akinesiahypokinesia sequence, fetal akinesia deformation sequence, arthrogryposis multiplex congenita with pulmonary hypoplasia. A new mutation in the csb gene in a chinese patient with.
If they survive, they are likely to develop shortgut syndrome with malabsorption. Penashokeir syndrome is an inherited disorder characterized by neurogenic arthrogryposis, facial. In general appearance, she had apparent ocural hypertelorism, a depressed tip of the nose, lowset malformed ears, and microglossia in the head. Penashokeir phenotype with variable onset in three. The importance of early prenatal diagnosis, appropriate counseling and thorough evaluation of the neuromuscular system is discussed. The cerebral malformations may also indicate the time of origin and contribute in the perinatal death of this syndrome. In the pena shokeir phenotype, bilateral opercular polymicrogyria may contribute to deficits in swallowing and facial movements. Other symptoms may include hearing loss, tooth decay, vision problems, and bone abnormalities.
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