Autosomal or X‐linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy

Dahlberg, Philip J.; Borer, William Z.; Newcomer, Kermit L.; Yutuc, Wilfrido R.

doi:10.1002/ajmg.1320160115

Cited by 46 publications

(6 citation statements)

References 7 publications

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“…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.…”

Section: Discussionmentioning

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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“…Dahlberg et al reported two brothers who also had lymphoedema, pulmonary lymphangiectasia, renal insufficiency, and prolapsing mitral valves. 8 Barakat et al reported two brothers who had hypoparathyroidism, nerve deafness, and steroid resistant nephrotic syndrome.9 A renal biopsy specimen taken from one of the boys revealed fetal like glomeruli. There are some similarities between these children and those reported here in that two of the children in our series had documented nerve deafness and fetal like glomeruli was seen at biopsy in case 2.…”

Section: Discussionmentioning

confidence: 99%

Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.

Shaw

Haigh

Lealmann

et al. 1991

Archives of Disease in Childhood

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Four children (two boys and two girls) with hypoparathyroidism, renal insufficiency, and developmental delay are described. They were the products of consanguineous marriages in three related Asian families presenting over a six year period. AU figure). He was the first child of Asian parents who were first cousins. He became lethargic on the ninth day of life and investigations showed evidence of a metabolic acidosis (pH 7-18, base excess -17 mmol/l), with hypocalcaemia (1-32 mmol/l), and hyponatraemia (115 mmol/1). He was treated with sodium bicarbonate, calcium gluconate, and the vitamin D analogue alfacalcidol. Further investigations gave normal results and included an infection screen, plasma 17 hydroxyprogesterone, serum amino acid and ammonia, and urinary organic acid concentrations. He had evidence of a distal renal tubular acidosis because he was unable to achieve a urinary pH below 5 5. Over the next few months he continued to have evidence of hypocalcaemia and failed to thrive. He was reassessed at the age of 5 months. At this time his weight was 3-4 kg (2 5 kg less than the third centile), height 61 cm, and head circumference 39 cm (both less than the third centile). He was generally hypotonic with poor head control. Investigations (see table) confirmed hypocalcaemia and hyperphosphataemia with a normal magnesium (0-93 mmol/l).He had normal values for plasma albumin and alkaline phosphatase. He had evidence of renal insufficiency and a compensated metabolic acidosis. His calculated index of phosphate reabsorption (tubular maximum reabsorption of phosphate/glomerular filtration rate, TmPO4/

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“…None of these resemble the current family either facially or in the spectrum of associated malformations. Case reports of lymphedema syndromes in association with a variety of abnormalities can be found in the published literature [Avasthey and Roy, 1968; Dahlberg et al, 1983; Doffinger et al, 2001]. To our knowledge none of these involved the neurodevelopmental abnormalities seen in our patients.…”

Section: Discussionmentioning

confidence: 62%

Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?

O’Driscoll¹,

Kim²,

Saitta³

et al. 2010

American J of Med Genetics Pt A

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We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance.

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Autosomal or X‐linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy

Abstract: Two brothers were found to have an unusual congenital syndrome of lymphedema, pulmonary lymphagiectasia, hypoparthyroidism, hereditary nephropathy, prolapsing mitral valve, and other somatic abnormalities.

Cited by 46 publications

References 7 publications

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

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

Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.

Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?

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