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Fryns syndrome

(Redirected from Hydrocephaly corpus callosum agenesis diaphragmatic hernia)

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period.[1] Fryns (1987) reviewed the syndrome.[2]

Fryns syndrome
Other namesDiaphragmatic hernia-abnormal face-distal limb anomalies syndrome
Fryns syndrome is inherited in an autoosomal recessive manner.
SpecialtyMedical genetics Edit this on Wikidata

Presentation

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Usually associated with diaphragmatic hernia, pulmonary hypoplasia, imperforate anus, micropenis, bilateral cryptorchidism, cerebral ventricular dilation, camptodactyly, agenesis of sacrum, low-set ear.[citation needed]

Cytogenetics

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In a newborn boy thought to have Fryns syndrome, Clark and Fenner-Gonzales (1989) found mosaicism for a tandem duplication of 1q24-q31.2.[3] They suggested that the gene for this disorder is located in that region. However, de Jong et al. (1989), Krassikoff and Sekhon (1990), and Dean et al. (1991) found possible Fryns syndrome associated with anomalies of chromosome 15, chromosome 6, chromosome 8 and chromosome 22, respectively.[4][5][6] Thus, these cases may all represent mimics of the mendelian syndrome and have no significance as to the location of the gene for the recessive disorder.[citation needed]

By array CGH, Slavotinek et al. (2005) screened patients with DIH and additional phenotypic anomalies consistent with Fryns syndrome for cryptic chromosomal aberrations.[7] They identified submicroscopic chromosome deletions in 3 probands who had previously been diagnosed with Fryns syndrome and had normal karyotyping with G-banded chromosome analysis. Two female infants were found to have microdeletions involving 15q26.2 (see 142340), and 1 male infant had a deletion in band 8p23.1 (see 222400).[citation needed]

Diagnosis

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Prenatal Diagnosis:

  • Aymé, et al. (1989) reported prenatal diagnosis of Fryns syndrome by sonography between 24 and 27 weeks.[8]
  • Manouvrier-Hanu et al. (1996) described the prenatal diagnosis of Fryns syndrome by ultrasonographic detection of diaphragmatic hernia and cystic hygroma.[9] The diagnosis was confirmed after termination of the pregnancy. The fetus also had 2 erupted incisors; natal teeth had not been mentioned in other cases of Fryns syndrome.

Differential Diagnosis:

  • McPherson et al. (1993) noted the phenotypic overlap between Fryns syndrome and the Pallister–Killian syndrome (601803), which is a dysmorphic syndrome with tissue-specific mosaicism of tetrasomy 12p.[10]
  • Veldman et al. (2002) discussed the differentiation between Fryns syndrome and Pallister–Killian syndrome, noting that differentiation is important to genetic counseling because Fryns syndrome is an autosomal recessive disorder and Pallister–Killian syndrome is usually a sporadic chromosomal aberration.[11] However, discrimination may be difficult due to the phenotypic similarity. In fact, in some infants with 'coarse face,' acral hypoplasia, and internal anomalies, the initial diagnosis of Fryns syndrome had to be changed because mosaicism of isochromosome 12p was detected in fibroblast cultures or kidney tissue.[12] Although congenital diaphragmatic hernia is a common finding in both syndromes, bilateral congenital diaphragmatic hernia had been reported only in patients with Fryns syndrome until the report of the patient with Pallister–Killian syndrome by Veldman et al. (2002).[11]
  • Slavotinek (2004) reviewed the phenotypes of 52 reported cases of Fryns syndrome and reevaluated the diagnostic guidelines.[13] She concluded that congenital diaphragmatic hernia and distal limb hypoplasia are strongly suggestive of Fryns syndrome, with other diagnostically relevant findings including pulmonary hypoplasia, craniofacial dysmorphism, polyhydramnios, and orofacial clefting. Slavotinek (2004) stated that other distinctive anomalies not mentioned in previous guidelines include ventricular dilatation or hydrocephalus, agenesis of the corpus callosum, abnormalities of the aorta, dilatation of the ureters, proximal thumbs, and broad clavicles.[13]

Epidemiology

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In France, Aymé, et al. (1989) estimated the prevalence of Fryns syndrome to be 0.7 per 10,000 births based on the diagnosis of 6 cases in a series of 112,276 consecutive births (live births and perinatal deaths).[8]

Cases

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  • Fryns et al. (1979) reported 2 stillborn sisters with a multiple congenital anomaly syndrome characterized by coarse facies with cloudy corneae, diaphragmatic defects, absence of lung lobulation, and distal limb deformities.[14] A sporadic case was reported by Goddeeris et al. (1980).[15] Fitch (1988) claimed that she and her colleagues were the first to describe this disorder.[16] In 1978 they reported a single infant, born of second-cousin parents, who had absent left hemidiaphragm, hydrocephalus, arhinencephaly, and cardiovascular anomalies.[17]
  • Lubinsky et al. (1983) reported a brother and sister with Fryns syndrome who both died in the neonatal period.[18] Facial anomalies included broad nasal bridge, microretrognathia, abnormal helices, and cleft palate. Other features included distal digital hypoplasia, lung hypoplasia, and urogenital abnormalities, including shawl scrotum, uterus bicornis, and renal cysts. They were discordant for diaphragmatic hernia, cleft lip, and Dandy–Walker anomaly.[citation needed]
  • Meinecke and Fryns (1985) reported an affected child; consanguinity of the parents supported recessive inheritance.[19] They noted that a diaphragmatic defect had been described in 4 of the 5 reported cases and lung hypoplasia in all. Young et al. (1986) reported a sixth case.[20] The male infant survived for 12 days. These authors listed corneal clouding, camptodactyly with hypoplastic nails, and abnormalities of the diaphragm as cardinal features.
  • Samueloff et al. (1987) described a family in which all 4 children had Fryns syndrome and neonatal mortality.[21] Features included hypoplastic lungs, cleft palate, retrognathia, micrognathism, small thorax, diaphragmatic hernia, distal limb hypoplasia, and early onset of polyhydramnios with premature delivery. Schwyzer et al. (1987) described an affected infant whose parents were second cousins.[22]
  • Moerman et al. (1988) described infant brother and sister with the syndrome of diaphragmatic hernia, abnormal face, and distal limb anomalies.[23] Both died shortly after birth with severe respiratory distress. Ultrasonography demonstrated fetal hydrops, diaphragmatic hernia, and striking dilatation of the cerebral ventricles in both infants. Post-mortem examination showed Dandy–Walker malformation, ventricular septal defect, and renal cystic dysplasia.
  • Cunniff et al. (1990) described affected brothers and 3 other cases, bringing the total reported cases of Fryns syndrome to 25.[24] One of the affected brothers was still alive at the age of 24 months. Bilateral diaphragmatic hernias had been repaired on the first day of life. He required extracorporeal membrane oxygenation therapy for 5 days and oscillatory therapy for 3 months. Ventriculoperitoneal shunt was required because of slowly progressive hydrocephalus. Scoliosis was associated with extranumerary vertebral bodies and 13 ribs. Because of delayed gastric emptying, a gastrostomy tube was inserted. In addition, because of persistent chylothorax, he underwent decortication of the right lung and oversewing of the thoracic duct.
  • Kershisnik et al. (1991) suggested that osteochondrodysplasia is a feature of Fryns syndrome.[25]
  • Willems et al. (1991) suggested that a diaphragmatic hernia is not a necessary feature of Fryns syndrome.[26] They described a child with all the usual features except for diaphragmatic hernia; the diaphragm was reduced to a fibrous web with little muscular component. Bartsch et al. (1995) presented 2 unrelated cases with a typical picture of Fryns syndrome but without diaphragmatic hernia.[27] One of these patients was alive at the age of 14 months, but had severe intellectual disability. Bamforth et al. (1987) and Hanssen et al. (1992) also described patients with this syndrome who survived the neonatal period.[28][29] In the report of Hanssen et al. (1992), 2 older siblings had died in utero.[29] The reports suggested that survival beyond the neonatal period is possible when the diaphragmatic defect and lung hypoplasia are not present. Nevertheless, intellectual disability has been present in all surviving patients.
  • Vargas et al. (2000) reported a pair of monozygotic twins with Fryns syndrome discordant for severity of diaphragmatic defect.[30] Both twins had macrocephaly, coarse facial appearance, hypoplasia of distal phalanges, and an extra pair of ribs. Twin A lacked an apparent diaphragmatic defect, and at 1 year of age had mild developmental delay. Twin B had a left congenital diaphragmatic hernia and died neonatally. The authors suggested that absence of diaphragmatic defect in Fryns syndrome may represent a subpopulation of more mildly affected patients.
  • Aymé, et al. (1989) described 8 cases of Fryns syndrome in France.[8] The most frequent anomalies were diaphragmatic defects, lung hypoplasia, cleft lip and palate, cardiac defects, including septal defects and aortic arch anomalies, renal cysts, urinary tract malformations, and distal limb hypoplasia. Most patients also had hypoplastic external genitalia and anomalies of internal genitalia, including bifid or hypoplastic uterus or immature testes. The digestive tract was also often abnormal; duodenal atresia, pyloric hyperplasia, malrotation and common mesentery were present in about half of the patients. When the brain was examined, more than half were found to have Dandy–Walker anomaly and/or agenesis of the corpus callosum. A few patients demonstrated cloudy cornea. Histologically, 2 of 3 patients showed retinal dysplasia with rosettes and gliosis of the retina, thickness of the posterior capsule of the lens, and irregularities of Bowman layer.
  • Alessandri et al. (2005) reported a newborn from the Comores Islands with clinical features of Fryns syndrome without diaphragmatic hernia.[1] They noted that diaphragmatic hernia is found in more than 80% of cases and that at least 13 other cases had been reported with an intact diaphragm.
  • In a postneonatal survivor of Fryns syndrome, Riela et al. (1995) described myoclonus appearing shortly after birth, which was well controlled on valproate.[31] Progressive cerebral and brainstem atrophy was noted on serial MRIs made at 3 months and after 6 months of age.
  • Van Hove et al. (1995) described a boy with Fryns syndrome who survived to age 3 years and reviewed the outcome of other reported survivors (approximately 14% of reported cases).[32] Survivors tended to have less frequent diaphragmatic hernia, milder lung hypoplasia, absence of complex cardiac malformation, and severe neurologic impairment. Their patient had malformations of gyration and sulcation, particularly around the central sulcus, and hypoplastic optic tracts beyond the optic chiasm associated with profound intellectual disability.
  • Fryns and Moerman (1998) reported a second-trimester male fetus with Fryns syndrome and midline scalp defects.[33] The authors stated that the finding of a scalp defect in Fryns syndrome confirms that it is a true malformation syndrome with major involvement of the midline structures.
  • Ramsing et al. (2000) described 2 sibships with 4 fetuses and 1 preterm baby of 31 weeks' gestation affected by a multiple congenital disorder suggestive of Fryns syndrome.[34] In addition to the diaphragmatic defects and distal limb anomalies, they presented with fetal hydrops, cystic hygroma, and multiple pterygias. Two affected fetuses in 1 family showed severe craniofacial abnormalities with bilateral cleft lip and palate and cardiovascular malformation.
  • Arnold et al. (2003) reported a male fetus with Fryns syndrome and additional abnormalities, in particular, multiple midline developmental defects including gastroschisis, central nervous system defects with left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge, and maxillary bone, and cleft nose with bilateral choanal atresia.[35]
  • Pierson et al. (2004) reviewed 77 reported patients with Fryns syndrome and summarized the abnormal eye findings identified in 12 of them.[36] They also described 3 new patients with Fryns syndrome, 1 of whom demonstrated unilateral microphthalmia and cloudy cornea.
  • Slavotinek et al. (2005) noted that Fryns syndrome may be the most common autosomal recessive syndrome in which congenital diaphragmatic hernia (see DIH2, 222400) is a cardinal feature. The autosomal recessive inheritance in Fryns syndrome contrasts with the sporadic inheritance for most patients with DIH.[7]

References

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  1. ^ a b Alessandri L, Brayer C, Attali T, et al. (2005). "Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature". Genet. Couns. 16 (4): 363–70. PMID 16440878.
  2. ^ Fryns JP (May 1987). "Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia". J. Med. Genet. 24 (5): 271–4. doi:10.1136/jmg.24.5.271. PMC 1050049. PMID 3585941.
  3. ^ Clark RD, Fenner-Gonzales M (November 1989). "Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2". Am. J. Med. Genet. 34 (3): 422–6. doi:10.1002/ajmg.1320340319. PMID 2596530.
  4. ^ de Jong G, Rossouw RA, Retief AE (July 1989). "Ring chromosome 15 in a patient with features of Fryns' syndrome". J. Med. Genet. 26 (7): 469–70. doi:10.1136/jmg.26.7.469. PMC 1015654. PMID 2746621.
  5. ^ Krassikoff N, Sekhon GS (July 1990). "Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair?". Am. J. Med. Genet. 36 (3): 363–4. doi:10.1002/ajmg.1320360327. PMID 2363440.
  6. ^ Dean JC, Couzin DA, Gray ES, Lloyd DJ, Stephen GS (November 1991). "Apparent Fryns' syndrome and aneuploidy: evidence for a disturbance of the midline developmental field". Clin. Genet. 40 (5): 349–52. doi:10.1111/j.1399-0004.1991.tb03108.x. PMID 1756610. S2CID 38917050.
  7. ^ a b Slavotinek A, Lee SS, Davis R, et al. (September 2005). "Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1". J. Med. Genet. 42 (9): 730–6. doi:10.1136/jmg.2004.028787. PMC 1736126. PMID 16141010.
  8. ^ a b c Aymé S, Julian C, Gambarelli D, et al. (March 1989). "Fryns syndrome: report on 8 new cases". Clin. Genet. 35 (3): 191–201. doi:10.1111/j.1399-0004.1989.tb02927.x. PMID 2650934. S2CID 22750870.
  9. ^ Manouvrier-Hanu S, Devisme L, Vaast P, Boute-Benejean O, Farriaux JP (1996). "Fryns syndrome and erupted teeth in a 24-weeks-old fetus". Genet. Couns. 7 (2): 131–4. PMID 8831132.
  10. ^ McPherson EW, Ketterer DM, Salsburey DJ (August 1993). "Pallister–Killian and Fryns syndromes: nosology". Am. J. Med. Genet. 47 (2): 241–5. doi:10.1002/ajmg.1320470219. PMID 8213912.
  11. ^ a b Veldman A, Schlösser R, Allendorf A, et al. (July 2002). "Bilateral congenital diaphragmatic hernia: Differentiation between Pallister–Killian and Fryns syndromes". Am. J. Med. Genet. 111 (1): 86–7. doi:10.1002/ajmg.10438. PMID 12124742.
  12. ^ Rodríguez JI, Garcia I, Alvarez J, Delicado A, Palacios J (November 1994). "Lethal Pallister–Killian syndrome: phenotypic similarity with Fryns syndrome". Am. J. Med. Genet. 53 (2): 176–81. doi:10.1002/ajmg.1320530211. PMID 7856644.
  13. ^ a b Slavotinek AM (February 2004). "Fryns syndrome: a review of the phenotype and diagnostic guidelines". Am. J. Med. Genet. A. 124A (4): 427–33. doi:10.1002/ajmg.a.20381. PMID 14735597. S2CID 6508544.
  14. ^ Fryns JP, Moerman F, Goddeeris P, Bossuyt C, Van den Berghe H (1979). "A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities". Hum. Genet. 50 (1): 65–70. doi:10.1007/BF00295591. PMID 381161. S2CID 31721537.
  15. ^ Goddeeris P, Fryns JP, van den Berghe H (March 1980). "Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. — a new lethal syndrome". J Genet Hum. 28 (1): 57–60. PMID 7400786.
  16. ^ Fitch N (February 1988). "Fryns syndrome". J. Med. Genet. 25 (2): 135. doi:10.1136/jmg.25.2.135. PMC 1015459. PMID 3346889.
  17. ^ Fitch N, Srolovitz H, Robitaille Y, Guttman F (October 1978). "Absent left hemidiaphragm, arhinencephaly, and cardiac malformations". J. Med. Genet. 15 (5): 399–401. doi:10.1136/jmg.15.5.399. PMC 1013741. PMID 739533.
  18. ^ Lubinsky M, Severn C, Rapoport JM (March 1983). "Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome". Am. J. Med. Genet. 14 (3): 461–6. doi:10.1002/ajmg.1320140309. PMID 6859098.
  19. ^ Meinecke P, Fryns JP (December 1985). "The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance". Clin. Genet. 28 (6): 516–20. doi:10.1111/j.1399-0004.1985.tb00419.x. PMID 4075561. S2CID 33419971.
  20. ^ Young ID, Simpson K, Winter RM (February 1986). "A case of Fryns syndrome". J. Med. Genet. 23 (1): 82–4. doi:10.1136/jmg.23.1.82. PMC 1049547. PMID 3950939.
  21. ^ Samueloff A, Navot D, Birkenfeld A, Schenker JG (January 1987). "Fryns syndrome: a predictable, lethal pattern of multiple congenital anomalies". Am. J. Obstet. Gynecol. 156 (1): 86–8. doi:10.1016/0002-9378(87)90210-9. PMID 3799773.
  22. ^ Schwyzer U, Briner J, Schinzel A (January 1987). "Fryns syndrome in a girl born to consanguineous parents". Acta Paediatr Scand. 76 (1): 167–71. doi:10.1111/j.1651-2227.1987.tb10441.x. PMID 3564997. S2CID 44256314.
  23. ^ Moerman P, Fryns JP, Vandenberghe K, Devlieger H, Lauweryns JM (December 1988). "The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome". Am. J. Med. Genet. 31 (4): 805–14. doi:10.1002/ajmg.1320310413. PMID 3239572.
  24. ^ Cunniff C, Jones KL, Saal HM, Stern HJ (April 1990). "Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia". Pediatrics. 85 (4): 499–504. doi:10.1542/peds.85.4.499. PMID 2314962. S2CID 8945636.
  25. ^ Kershisnik MM, Craven CM, Jung AL, Carey JC, Knisely AS (June 1991). "Osteochondrodysplasia in Fryns syndrome". Am. J. Dis. Child. 145 (6): 656–60. doi:10.1001/archpedi.1991.02160060074024. PMID 1903587.
  26. ^ Willems PJ, Keersmaekers GH, Dom KE, et al. (November 1991). "Fryns syndrome without diaphragmatic hernia?". Am. J. Med. Genet. 41 (2): 255–7. doi:10.1002/ajmg.1320410225. PMID 1785645.
  27. ^ Bartsch O, Meinecke P, Kamin G (October 1995). "Fryns syndrome: two further cases without lateral diaphragmatic defects". Clin. Dysmorphol. 4 (4): 352–8. doi:10.1097/00019605-199510000-00012. PMID 8574427. S2CID 45709605.
  28. ^ Bamforth JS, Leonard CO, Chodirker BN, et al. (January 1989). "Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome". Am. J. Med. Genet. 32 (1): 93–9. doi:10.1002/ajmg.1320320120. PMID 2650550.
  29. ^ a b Hanssen AM, Schrander-Stumpel CT, Thiry PA, Fryns JP (1992). "Fryns syndrome: another example of non-lethal outcome with severe mental handicap". Genet. Couns. 3 (4): 187–93. PMID 1472353.
  30. ^ Vargas JE, Cox GF, Korf BR (September 2000). "Discordant phenotype in monozygotic twins with Fryns syndrome". Am. J. Med. Genet. 94 (1): 42–5. doi:10.1002/1096-8628(20000904)94:1<42::AID-AJMG9>3.0.CO;2-6. PMID 10982481.
  31. ^ Riela AR, Thomas IT, Gonzalez AR, Ifft RD (March 1995). "Fryns syndrome: neurologic findings in a survivor". J. Child Neurol. 10 (2): 110–3. doi:10.1177/088307389501000208. PMID 7782599. S2CID 36966691.
  32. ^ Van Hove JL, Spiridigliozzi GA, Heinz R, McConkie-Rosell A, Iafolla AK, Kahler SG (November 1995). "Fryns syndrome survivors and neurologic outcome". Am. J. Med. Genet. 59 (3): 334–40. doi:10.1002/ajmg.1320590311. PMID 8599357.
  33. ^ Fryns JP, Moerman P (1998). "Scalp defects in Fryns syndrome". Genet. Couns. 9 (2): 153–4. PMID 9664213.
  34. ^ Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B, Rehder H (December 2000). "Variability in the phenotypic expression of fryns syndrome: A report of two sibships". Am. J. Med. Genet. 95 (5): 415–24. doi:10.1002/1096-8628(20001218)95:5<415::AID-AJMG2>3.0.CO;2-J. PMID 11146459.
  35. ^ Arnold SR, Debich-Spicer DD, Opitz JM, Gilbert-Barness E (January 2003). "Documentation of anomalies not previously described in Fryns syndrome". Am. J. Med. Genet. A. 116A (2): 179–82, discussion 183. doi:10.1002/ajmg.a.10763. PMID 12494439. S2CID 42523155.
  36. ^ Pierson DM, Taboada E, Butler MG (March 2004). "Eye abnormalities in Fryns syndrome". Am. J. Med. Genet. A. 125A (3): 273–7. doi:10.1002/ajmg.a.20520. PMC 6719310. PMID 14994236.
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