BACKGROUND Phocomelia is a rare congenital disorder characterized by the absence or under-development of the proximal limbs.Phocomelia can occur as a syndrome or a limb-specific deformity.While historically linked to ...BACKGROUND Phocomelia is a rare congenital disorder characterized by the absence or under-development of the proximal limbs.Phocomelia can occur as a syndrome or a limb-specific deformity.While historically linked to thalidomide,non-thalido-mide causes include genetic mutations,vascular disruptions,and teratogenic exposures.This case highlights the diagnostic and therapeutic challenges in a neonate with bilateral phocomelia,low birth weight,asphyxia and jaundice.CASE SUMMARY We report a 2-week-old term neonate with bilateral phocomelia,micrognathia,jaundice,and low birth weight.The pregnancy was unremarkable,with no tha-lidomide exposure.The mother had a history of early pregnancy losses.Clinical evaluation revealed absent humeri and radii bilaterally,with hands attached proximally to the trunk.Genetic testing was not performed,limiting the identi-fication of underlying etiology.The patient was managed with supportive care,parental counseling,and planning for long-term rehabilitation.This case un-derscores the importance of multidisciplinary care in managing congenital ano-malies.Genetic evaluation is crucial in unexplained congenital anomalies.Routine detailed ultrasounds in high-risk pregnancies aid in early diagnosis and parental preparedness.CONCLUSION Bilateral phocomelia presents significant functional challenges.Comprehensive diagnostic workups and early rehabilitation strategies are essential for optimizing patient outcomes.展开更多
The teratogenicity of thalidomide has been known since the early 1960s [1]. Thalidomide is currently used world wide, including the United States, to treat erythema nodosum leprosum, multiple myeloma, refractory Crohn...The teratogenicity of thalidomide has been known since the early 1960s [1]. Thalidomide is currently used world wide, including the United States, to treat erythema nodosum leprosum, multiple myeloma, refractory Crohn’s disease, aphthous stomatitis and HIV wasting syndrome. New cases of thalidomide phocomelia are being reported as well. We report a case of the anesthetic challenges of a 23 year-old parturient with thalidomide phocomelia and review the important anesthetic challenges it presents. Spontaneous vaginal delivery under continuous lumbar epidural was achieved in this challenging patient. However, it required careful planning for reliable intravenous access and the use of magnetic resonance imaging (MRI) of her pelvis and lumbar spine.展开更多
BACKGROUND Congenital glaucoma associated with Roberts syndrome(RS)is an unusual and unique condition.No previous report describes this association.A multidisciplinary approach including molecular studies were conduct...BACKGROUND Congenital glaucoma associated with Roberts syndrome(RS)is an unusual and unique condition.No previous report describes this association.A multidisciplinary approach including molecular studies were conducted to reach the final diagnosis.CASE SUMMARY We present a rare case of a 1-wk-old male with RS associated with bilateral congenital glaucoma,left ectopic kidney,and left-hand rudimentary digits.A comprehensive approach was applied by which bilateral non-penetrating glaucoma surgery was performed with good control of intraocular pressure for more than 6 mo.Cytogenetic and molecular testing were conducted and revealed normal measurements.CONCLUSION This report described a case of a male baby with clinical features of RS but with a negative molecular analysis,presenting with left-hand rudimentary digits,bilateral congenital glaucoma,and left ectopic kidney.To the best of our knowledge,this is the first case reported with phocomelia,bilateral congenital glaucoma,and unilateral ectopic kidney.展开更多
文摘BACKGROUND Phocomelia is a rare congenital disorder characterized by the absence or under-development of the proximal limbs.Phocomelia can occur as a syndrome or a limb-specific deformity.While historically linked to thalidomide,non-thalido-mide causes include genetic mutations,vascular disruptions,and teratogenic exposures.This case highlights the diagnostic and therapeutic challenges in a neonate with bilateral phocomelia,low birth weight,asphyxia and jaundice.CASE SUMMARY We report a 2-week-old term neonate with bilateral phocomelia,micrognathia,jaundice,and low birth weight.The pregnancy was unremarkable,with no tha-lidomide exposure.The mother had a history of early pregnancy losses.Clinical evaluation revealed absent humeri and radii bilaterally,with hands attached proximally to the trunk.Genetic testing was not performed,limiting the identi-fication of underlying etiology.The patient was managed with supportive care,parental counseling,and planning for long-term rehabilitation.This case un-derscores the importance of multidisciplinary care in managing congenital ano-malies.Genetic evaluation is crucial in unexplained congenital anomalies.Routine detailed ultrasounds in high-risk pregnancies aid in early diagnosis and parental preparedness.CONCLUSION Bilateral phocomelia presents significant functional challenges.Comprehensive diagnostic workups and early rehabilitation strategies are essential for optimizing patient outcomes.
文摘The teratogenicity of thalidomide has been known since the early 1960s [1]. Thalidomide is currently used world wide, including the United States, to treat erythema nodosum leprosum, multiple myeloma, refractory Crohn’s disease, aphthous stomatitis and HIV wasting syndrome. New cases of thalidomide phocomelia are being reported as well. We report a case of the anesthetic challenges of a 23 year-old parturient with thalidomide phocomelia and review the important anesthetic challenges it presents. Spontaneous vaginal delivery under continuous lumbar epidural was achieved in this challenging patient. However, it required careful planning for reliable intravenous access and the use of magnetic resonance imaging (MRI) of her pelvis and lumbar spine.
文摘BACKGROUND Congenital glaucoma associated with Roberts syndrome(RS)is an unusual and unique condition.No previous report describes this association.A multidisciplinary approach including molecular studies were conducted to reach the final diagnosis.CASE SUMMARY We present a rare case of a 1-wk-old male with RS associated with bilateral congenital glaucoma,left ectopic kidney,and left-hand rudimentary digits.A comprehensive approach was applied by which bilateral non-penetrating glaucoma surgery was performed with good control of intraocular pressure for more than 6 mo.Cytogenetic and molecular testing were conducted and revealed normal measurements.CONCLUSION This report described a case of a male baby with clinical features of RS but with a negative molecular analysis,presenting with left-hand rudimentary digits,bilateral congenital glaucoma,and left ectopic kidney.To the best of our knowledge,this is the first case reported with phocomelia,bilateral congenital glaucoma,and unilateral ectopic kidney.
