Nonlethal multiple pterygium syndrome: Escobar syndrome.
Nonlethal Escobar is a rare disorder that is a variant of multiple pterygium syndromes. It is a form of arthrogryposis multiplex congenita characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. It is usually diagnosed in utero on fetal ultrasound and then confirmed in the neonatal period. A case of nonlethal neonatal Escobar is reported in a 35-week-and-6-day old infant who presented in utero with decreased fetal movement, oligohydramnios, and arthrogryposis. The etiologies from maternal causes were excluded prior to birth. Subsequent workup after birth led to a highly suspected diagnosis of nonlethal Escobar by the geneticist. The diagnosis was confirmed by a positive CHRNG gene sequence analysis after discharge. The infant demonstrated contractures and bilateral hip subluxation but was feeding well and was discharged home with outpatient follow-up. Treatment after discharge has been extensive secondary to difficulties associated with this disease. The clinical presentation of nonlethal Escobar, as well as diagnosis and treatment strategies, is provided with caregiving strategies.
College of Nursing (Dr Bissinger) and Division of Neonatology, Department of Pediatrics (Dr Koch), Medical University of South Carolina, Charleston.
Robin L
RL
Bissinger
Frances R
FR
Koch
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001176:Arthrogryposis / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008305:Malignant Hyperthermia / Q000175:diagnosis* / Q000235:genetics; D011978:Receptors, Nicotinic / Q000235:genetics; D012868:Skin Abnormalities / Q000175:diagnosis* / Q000235:genetics
C539275:CHRNG protein, human; D011978:Receptors, Nicotinic