venous connection PAPVC and congenitalmeasured 48 cm in length She had a narrowFraser syndrome is characterized by cryptophthalmossyndactyly malformations of the larynx andcraniofacial dysmorphis ID: 955574
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510VFraser Syndrome withPartial Anomalous PulmonaryVenous ConnectionHAPAHATTACHARYAFrom the Department of Pediatrics, The Institute of ChildHealth, 11, Dr. Biresh Guha Street, Kolkata 700 017.Correspondence to: Dr. Rajoo Thapa, The Institute ofChild Health,11, Dr. Biresh Guha Street, Kolkata 700 017,Manuscript received: May 28, 2007;Initial review completed: July 10, 2007; venous connection (PAPVC) and congenitalmeasured 48 cm in length. She had a narrowFraser syndrome is characterized by cryptophthalmos,syndactyly, malformations of the larynx andcraniofacial dysmorphism, orofacialclefting, mental retardation,anomalies. We report a case of a two day old neonate whopresented with features suggestive of the diagnosis ofFraser syndrome. This child also had partial anomalousthyroidism.Fraser syndrome, Hypothyroidism, Partialhelix. The left was not externally malformed. Theupper and lower limbs were normal. The genitaliacaliber.Facial features comprising of bilateral completecryptophthalmos, narrow forehead, a tongue of scalphair descending on to the lateral end of eyebrows, 511Vabnormality..µg/L (normal: 4.8-11.6 L); TSH: 48.4 I
U/L (normal: 0.28-5.6 mothers thyroid profile was normal.both eyes at the time of surgery. Mutation studies FRAS1 gene located on the long arm ofdiagnostic criteria proposed by Thomas, which require at least two major and one minor, orsyndactyly, abnormal genitalia, and sibling withmalformations of the nose, ear, larynx, (The cardiac anomalies reported thus far in Frasera variant of Ebstein anomaly,A patent foramen ovale and patent ductusconnection. We could not investigate the cause ofthat the observed finding is incidental. Withuniformly poor. Otherwise the prognosis isRT: diagnosis and manuscript writing; AB:manuscript drafting and review.Competing interest: 1.Fraser GR. Our genetic load: A review of someaspects of genetical variation. Ann Hum Genet2.Thomas IT, Frias JL, Felix V, Sanchez de Leon L,cryptophthalmos. Am J Med Genet 1986; 25: 85-3.Martínez-Frías ML, Bermejo E, Sánchez Otero T,4.Boyd PA, Keeling JW, Lindenbaum RH. Fraser5.Jagtap SR, Malde AD, Pantvaidya SH. Anaesthetic6.Lambert JC, Touitou I, Paquis V, Sauniéres AM.7.Janssen HCJP, Schaap C, Vandevijver N, Moerman8.Mena W, Krassikoff N, Philips JB III. Fused