Unusual autosomal recessive lymphatic anomalies in two unrelated Amish families

Williams, Marc S.; Josephson, Kevin D.

doi:10.1002/(sici)1096-8628(19971219)73:3<286::aid-ajmg11>3.0.co;2-f

Cited by 14 publications

(2 citation statements)

References 9 publications

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“…Additional patients [Bellini et al, 2001; Van Haelst et al, 2001] have proved that Urioste syndrome can resemble the present entity to a large extent. Other entities that should be considered are the lymphedema‐cholestasis (Aagenaes) syndrome [Aagenæs, 1998], autosomal recessive congenital chylothorax with edema developing in the first days of life [Williams and Josephson, 1997], congenital lymphedema in two brothers with unusual face and atrial septal defect [Irons et al, 1996], and congenital pulmonary lymphangiectasia without peripheral lymphedema and with hemidiaphragmatic eventration, very small mouth, and other dysmorphic features [Gilewski et al, 1996]. Congenital lymphedema may also be present in the autosomal dominant Milroy disease [Ferrell et al, 1998], distichiasis– lymphedema syndrome [Robinow et al, 1970], microcephaly–lymphedema syndrome [Crowe and Dickerman, 1986], hypoparathyroidism–nephropathy–lymphedema syndrome [Dahlberg et al, 1983], lissencephaly–cerebellar hypoplasia–lymphedema syndrome [Hourihane et al, 1993], velocardiofacial syndrome [Mansir et al, 1999], anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema [Doffinger et al, 2001], and Turner syndrome.…”

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confidence: 99%

Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review

et al. 2002

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The Hennekam syndrome is an infrequently reported heritable entity characterized by lymphedema, lymphangiectasia, and developmental delay. Here we add an additional 8 patients, and compare their findings to the 16 cases from the literature. The lymphedema is usually congenital, can be markedly asymmetrical, and, often, gradually progressive. Complications such as erysipelas are common. The lymphangiectasias are present in the intestines, but have also been found in the pleura, pericardium, thyroid gland, and kidney. Several patients have demonstrated congenital cardiac and blood vessel anomalies, pointing to a disturbance of angiogenesis in at least some of the patients. Facial features are variable, and are chiefly characterized, in a typical patient, by a flat face, flat and broad nasal bridge, and hypertelorism. Facial features are thought to mirror the extent of intrauterine facial lymphedema, or may be caused by lymphatic obstruction that affects the early migration of neural crest tissue. Other anomalies have included glaucoma, dental anomalies, hearing loss, and renal anomalies. The psychomotor development varies widely, even within a single family, from almost normal development to severe mental retardation. Convulsions are common. The existence of 10 familial cases, equal sex ratio, increased parental consanguinity rate (4/20 families), and absence of vertical transmission are consistent with an autosomal recessive pattern of inheritance. It seems likely that most (but not all) manifestations of the entity can be explained as sequences of impaired prenatal and postnatal lymphatic flow, suggesting that the causative gene(s) should have a major function in lymphangiogenesis.

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Section: Discussionmentioning

confidence: 99%

Lymphedema–lymphangiectasia–mental retardation (Hennekam) syndrome: A review

et al. 2002

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“…Prior to our family there was only one report of the recurrence of congenital chylothorax in two siblings of different gender. Williams and Josephson 8 reported a male infant born at 34 weeks of gestation to an Amish couple known to have distant common ancestors. Respiratory distress occurred immediately after birth and chest drainage yielded chylous fluid, but the infant was not initially oedematous.…”

Section: Discussionmentioning

confidence: 99%

Congenital chylothorax in siblings

Battin

Yan

Aftimos

et al. 2000

BJOG

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Case reportThe parents were of Tongan origin, unrelated and in good health. There was no history of familial or metabolic disease in either family. At the age of 26 years, the mother booked in her first pregnancy at eight weeks of gestation. She had an uneventful pregnancy until 33 weeks of gestational age when she developed polyhydramnios. An ultrasound scan revealed that the fetus was hydropic with bilateral pleural effusions and ascites. Fetal lung lengths were 34 mm and 42 mm which were within the normal range ( Fig. 1). At 34 weeks amnio-reduction was performed. However, the hydrops worsened. At 36 weeks, following a course of antenatal steroids, a live male infant was delivered by caesarean section. The birthweight was 3850 g and Apgar scores were given as 1 at 1,5 at 5 and 6 at 10 minutes, respectively. Despite aggressive treatment, including pleural and abdominal paracentesis, ventilation with high pressures, nitric oxide and inotropic support, he died two days after birth.Analysis of the pleural fluid revealed a high white cell count (21,000 x 10%) and lymphocyte predominance (95% lymphocytes), which suggested chyle. Echocardiography, abdominal ultrasound and karyotype were all normal. Congenital infection and metabolic screens were negative and fetomatemal haemonhage or haemol ysis were excluded. The post-mortem examination confirmed nonimmune hydrops with pleural effusions but no structural abnormality of the lymphatic system was identified. There was, however, evidence of pulmonary immaturity and hyaline membrane formation.The parents were counselled that congenital chylothorax was a sporadic condition and that the recurrence risk was low. Two years later, following an uneventful pregnancy, a normal female infant weighing 3380 g was delivered by repeat caesarean section at term.At 30 years of age, the mother booked again early in her third pregnancy. Ultrasound scans at 18 and 22 weeks were unremarkable, but at 34 weeks she again developed polyhydramnios. The ultrasound scan at this time demonstrated the presence of bilateral pleural effusions, ascites and oedema. The fetal lung lengths were 28 and 29 mm which were below the 5th centile for gestational age. At 35 weeks, following a course of antenatal steroids, bilateral fetal pleurocentesis was performed; 105 mL and 70 mL were drained from the left and right sides, respectively, and re-expansion of both lungs to 41 and 4 4 mm was achieved, which was well within the normal range. This suggested that the pleural effusions were of recent origin, with compression of well grown lungs. However, two days later, the pleural fluid had re-accumulated; a 3300 g live female infant was delivered by caesarean section.At birth the baby was grossly hydropic and required resuscitation with positive pressure ventilation and immediate bilateral pleural drainage. Apgar scores were 4 at 1 and 8 at 5 minutes, respectively. No dysmorphic features were noted. The ascites and oedema improved quickly, but pleural drainage continued until day 21. Initially, pleural losses wer...

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