Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation

Pavone, Lorenzo; Rizzo, Renata; Ruggieri, Martino; Sorge, Giovanni

doi:10.1097/00019605-199607000-00006

Cited by 7 publications

(7 citation statements)

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“…This condition is similar to one described by Anavi et al [1989], but also overlaps various syndromes characterized by gingival hypertrophy [Zimmermann, 1928;Lä-wen, 1929;Laband et al, 1964;Alavandar, 1965;Snyder, 1965;Witkop, 1971;Winter and Simpkiss, 1974;Chodirker et al, 1986;de Pina Neto et al, 1988;Kiss, 1990;Takagi et al, 1991;Pfeiffer et al, 1992;Chadwick et al, 1994;Lacombe et al, 1994;Pavone et al, 1996;Pavone et al, 1997]. Among these are autosomal recessive and dominant disorders.…”

Section: Introductionsupporting

confidence: 80%

“…An- other patient reported by Pavone et al [1996] had hypertrichosis and mental retardation. Hands and feet were short with short, broad phalanges.…”

Section: Discussionmentioning

confidence: 96%

“…Numerous syndromes are described characterized by gingival hypertrophy and mental retardation [Zimmermann, 1928;Lä wen, 1929;Laband et al, 1964;Snyder, 1965;Houston and Shotts, 1966;Winter and Simpkiss, 1974;Cross et al, 1967;de Pina Neto, 1986, 1988Chodirker et al, 1986;Anavi et al, 1989;Kiss , 1990;Takagi et al, 1991;Pfeiffer et al, 1992;Chadwick et al, 1994;Lacombe et al, 1994;Pavone et al, 1996Pavone et al, , 1997.…”

Section: Discussionmentioning

confidence: 99%

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Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?

et al. 2000

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Two sisters born to consanguineous Lebanese parents had mental retardation and epilepsy, brachymetacarpalia, hirsutism, bulbous soft nose, thick floppy ears with abnormal configuration and gingival hypertrophy. One girl presented additionally with tetralogy of Fallot and the other with congenital hypothyroidism and bilateral ureteral stenosis. These manifestations resemble the syndrome of hypertrichosis-gingival fibromatosis-mental retardation and seizures of Anavi et al. [1989: Dev Med Child Neurol 31:538-542] but our two girls additionally have brachymetacarpia. The inheritance seems to be autosomal recessive. These two sisters may represent a hitherto undescribed syndrome. We discuss the findings in our patients in relation to the literature.

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Section: Introductionsupporting

confidence: 80%

“…An- other patient reported by Pavone et al [1996] had hypertrichosis and mental retardation. Hands and feet were short with short, broad phalanges.…”

Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

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Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?

et al. 2000

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“…The aim of the present study is to offer a clinical survey of generalized congenital hypertrichosis (CGH) and the most common malformation syndromes in which hypertrichosis is a presenting sign and a clue for the diagnosis of the underlying disorders. The clinical course of a patient previously described [ 10 ], with an updated follow-up after 20 years is described.…”

Section: Introductionmentioning

confidence: 99%

Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes

et al. 2015

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Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution.Hypertrichosis is classified according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved, and to whether the disorder is isolated or associated with other anomalies. Congenital hypertrichosis is rare and may be an isolated condition of the skin or a component feature of other disorders. Acquired hypertrichosis is more frequent and is secondary to a variety of causes including drug side effects, metabolic and endocrine disorders, cutaneous auto-inflammatory or infectious diseases, malnutrition and anorexia nervosa, and ovarian and adrenal neoplasms. In most cases, hypertrichosis is not an isolated symptom but is associated with other clinical signs including intellective delay, epilepsy or complex body malformations.A review of congenital generalized hypertrichosis is reported with particular attention given to the disorders where excessive diffuse body hair is a sign indicating the presence of complex malformation syndromes. The clinical course of a patient, previously described, with a 20-year follow-up is reported.

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“…Since then, several more patients with the same combined phenotype have been reported in the literature, some of them also presenting with gingival or mucosal hyperplasia (present in [Canún et al, 2003; Kulkarni et al, 2011]; present only in 1 of 22 patients of [Sun et al, 2009]; not present in [Irvine et al, 1996; Zen et al, 2004]). Only one of them showed intellectual disability as an additional feature [Pavone et al, 1996]. None of the patients was reported to have cardiac hypertrophy, effusion or other cardiac features suggestive of Cantú syndrome; only one had a slightly distinctive radiograph of the hands with wide and tubular first metacarpals [Canún et al, 2003].…”

Section: Introductionmentioning

confidence: 99%

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9

Czeschik

Voigt

Goecke

et al. 2013

American J of Med Genetics Pt A

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We present two previously unreported and unrelated female patients, one with the tentative diagnosis of acromegaloid facial appearance (AFA), the other with the tentative diagnosis of hypertrichosis with acromegaloid facial appearance (HAFF) with or without gingival hyperplasia. Main clinical features of HAFF were generalized hypertrichosis terminalis and coarse facial features. In both patients, pregnancy was complicated by polyhydramnios, and both had hyperbilirubinemia and persistent fetal circulation. Development was normal in one patient and slightly delayed in the other. At 13 years, both had round faces with full cheeks, thick scalp hair and eyebrows, a low frontal hairline, hirsutism, hyperextensible joints and deep palmar creases. One of them additionally showed gingival hypertrophy and epicanthus, the other one was macrocephalic at birth and at the age of 13 years and suffered from repeated swelling of the soft tissue. Array analysis excluded a 17q24.2-q24.3 microdeletion, which has been reported in patients with hypertrichosis terminalis with or without gingival hyperplasia. Sequencing of the mutational hotspots of the ABCC9 gene revealed two different de novo missense mutations in the two patients. Recently, identical mutations have been found recurrently in patients with Cantú syndrome. Therefore, we propose that ABCC9 mutations lead to a spectrum of phenotypes formerly known as Cantú syndrome, HAFF and AFA, which may not be clearly distinguishable by clinical criteria, and that all patients with clinical signs belonging to this spectrum should be revisited and offered ABCC9 mutation analysis.

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Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation

Cited by 7 publications

References 0 publications

Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?

Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?

Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9

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