Not all cystic hygromas occur in the Ullrich‐Turner syndrome

Cowchock, F. Susan; Wapner, Ronald J.; Kurtz, Alfred B.; Chatzkel, Sherrie; Barnhart, Jay S.; Lesnick, Dianna C.; Opitz, John M.

doi:10.1002/ajmg.1320120310

Cited by 69 publications

(30 citation statements)

References 3 publications

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“…58% had a karyo type associated with Turner syndrome, 22% had normal karyotype and 28% had various other abnormalities, including trisomy 13 [4,5], trisomy 18 [3,[6][7][8][9][10][11], trisomy 21 [7,8,12], trisomy 22 mosaicism, 13q-, 18q-, par tial 1 lq,22q trisomy, and single gene disor ders inherited in an autosomally recessive manner. Roberts syndrome [13], Noonan syndrome [14], Cowchock syndrome [15], and distichiasis lymphedema syndrome have all been associated with CHC.…”

Section: Introductionmentioning

confidence: 99%

Amniotic Fluid Alpha-Fetoprotein Levels in the Differential Diagnosis of Cystic Hygroma

Sorokin¹,

Johnson²,

Drugan³

et al. 1989

Fetal Diagn Ther

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In 7 second trimester pregnancies ultrasound (US) demonstrated cystic hygroma colli (CHC); amniocentesis was performed in 6 patients. In the 7th patient, because of oli-gohydramnios, the fluid for karyotype was aspirated from the CHC. Five pregnancies had been referred secondary to abnormalities on US and 2 others because of low maternal serum alpha-fetoprotein (MSAFP). Four karyotypes were abnormal (45, X; 47, XX+21; 47.XY+21; 46, XX/45, X), and 3 had normal karyotypes. Amniotic fluid alpha-fetoprotein (AFAFP) was normal in 4 pregnancies and low in 2 (0.09 MOM, 0.41 MOM). Of 2 pregnancies with trisomy 21 one had been referred for low MSAFP. In 2 pregnancies with normal karyotypes, US findings at early gestational age (14–17 weeks) of small, nonseptated, bilateral CHC disappeared during pregnancy; these women delivered normal, term babies. Most prenatally diagnosed CHC are not in fetuses with Turner syndrome. With a normal karyotype and CHC as the only finding on early US in utero, normal neonatal survival is possible. AFAFP is not elevated in pregnancies with CHC. If AFAFP is elevated with a positive acetylcholinesterase, such results may suggest that the CHC was inadvertently aspirated.

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Section: Introductionmentioning

confidence: 99%

Amniotic Fluid Alpha-Fetoprotein Levels in the Differential Diagnosis of Cystic Hygroma

Sorokin¹,

Johnson²,

Drugan³

et al. 1989

Fetal Diagn Ther

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“…One fetus had associated meningomyelocele and cleft palate. Tricoire et al [1993] also reported on sibs with concordance for cystic hygroma and campomelic dysplasia, while Cowchock et al [1982] reported on male and female sibs concordant for cystic hygroma and cleft palate. The female also had asplenia.…”

Section: Family Twomentioning

confidence: 88%

Unusual autosomal recessive lymphatic anomalies in two unrelated Amish families

Williams

Josephson

1997

Am. J. Med. Genet.

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We report on two unrelated Amish families with familial occurrence of unusual lymphatic anomalies. The first family had two children, a boy and a girl, with congenital chylothorax both of whom died as a consequence of this condition (one prenatally and one neonatally). The second family has two brothers with isolated cystic hygroma. Neither family has any other individuals affected with any type of lymphatic anomaly. Differential diagnosis and presumed autosomal recessive inheritance pattern will be discussed. Familial cystic hygroma not associated with hydrops fetalis and neonatal death has not been reported previously.

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“…Cowchock Wapner Kurtz syndrome was fi rst described in 1982 in two sib patients with cystic hygroma and cleft palatal from normal parents suggesting recessive inheritance; the lymphangioma had sporadic origin, no Turner or Noonan syndrome [5]. At the present time this syndrome is a very rare lethal disorder in patients with big cervical lymphangioma manifested by a giant neck mass that can obstruct the airway and cause complications in the feeding, showing and accelerated growth; although is a lymphatic malformation can resemble a cervical teratoma.…”

Section: Discussionmentioning

confidence: 99%

Cowchock Wapner Kurtz Syndrome: Giant and Lethal Neck Cystic Hygroma: A Case Report

2017

Glob J Rare Dis

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Cowchock Wapner Kurtz syndrome is a very rare disease and lethal disorder with cervical lymphangioma obstructing the airway and causing complications, with accelerated growth resembling a teratoma. We report a 21-month-old infant with a congenital giant neck cystic hygroma, cleft palatal and deformation of the surrounded area by lymphedema and tissue swelling; started with respiratory compromise because the expansion of the malformation, requiring repetitive surgeries without remission, showing recurrence and accelerated growth of the mass. It was used sclerotherapy with Picibanil, without satisfactory response; the patient suffered a rapid deterioration and dead. This is a rare syndrome of genetic etiology currently not clarifi ed; apparently from healthy parents, and patient's karyotype normal, maybe can be a micro deletion that only could be detected using advanced cytogenetics.

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Not all cystic hygromas occur in the Ullrich‐Turner syndrome

Cited by 69 publications

References 3 publications

Amniotic Fluid Alpha-Fetoprotein Levels in the Differential Diagnosis of Cystic Hygroma

Amniotic Fluid Alpha-Fetoprotein Levels in the Differential Diagnosis of Cystic Hygroma

Unusual autosomal recessive lymphatic anomalies in two unrelated Amish families

Cowchock Wapner Kurtz Syndrome: Giant and Lethal Neck Cystic Hygroma: A Case Report

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