A new case of Zimmermann‐Laband syndrome with mild mental retardation, asymmetry of limbs, and hypertrichosis

Neto, João Monteiro de Pina; Soares, Lúcia Regina Martelli; Souza, Anita H. O.; Petean, Eucia Beatriz Lopes; Velludo, Maria Angeles Sanches Llorach; Freitas, Aldevina Campos de; Ribas, José Paulo; Opitz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320310326

Cited by 19 publications

(14 citation statements)

References 3 publications

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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: 60%

“…Hypertrichosis is frequently described in patients with gingival fibromatosis [Winter and Simpkiss, 1974;de Pina Neto et al, 1988;Anavi et al, 1989;Kiss, 1990;Takagi, 1991;Pfeiffer et al, 1992;Lacombe, 1994]. An- other patient reported by Pavone et al [1996] had hypertrichosis and mental retardation.…”

Section: Discussionmentioning

confidence: 92%

“…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: 97%

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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: 60%

Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 97%

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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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“…A total of 33 cases of this syndrome have been reported in the literature to date [1–5,7–20]. (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Zimmermann–Laband syndrome with bilateral developmental cataract – a new association?

Shah

Gupta

Ghose

2004

Int J Paed Dentistry

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An unusual case of Zimmermann-Laband syndrome in a young male child with an unreported association of bilateral developmental cataract is presented. The pathognomonic triad of gingival fibromatosis, aplastic or hypoplastic distal phalanges with absent nails, and enlargement of soft tissues of the face were obvious, besides the known moderate learning disability and mild hearing loss. The case is discussed in the light of relevant literature. To the best of our knowledge, this is the first report of early developmental cataracts in association with the Zimmermann-Laband syndrome. Besides detection and timely recognition of the syndrome to allow adequate dental care, ophthalmic screening at periodic intervals is merited to improve the overall quality of life for these patients.

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“…Other typical traits are mild to profound intellectual disability, hypertrichosis, nail aplasia or hypoplasia, hypoplastic terminal phalanges, and hepatosplenomegaly [de Pina Neto et al, 1988;Robertson et al, 1998;Stefanova et al, 2003;Hoogendij et al, 2006]. Although ZLS usually occurs de novo, the syndrome is transmitted as an autosomal dominant trait [Laband et al, 1964;Alavandar, 1965].…”

Section: Introductionmentioning

confidence: 99%

Expanding the phenotype of gingival fibromatosis–mental retardation–hypertrichosis (Zimmermann–Laband) syndrome

Chacón‐Camacho

Vázquez

Zenteno

2011

American J of Med Genetics Pt A

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Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, hypertrichosis, intellectual disability, and absence and/or hypoplasia of the nails or terminal phalanges of the hands and feet. The syndromic features of ZLS are highly variable and can overlap with other entities featuring gingival fibrosis. This study describes a patient with ZLS with novel findings, including colpocephaly, hemivertebra, polydactyly, hyperpigmentation, and hemihyperplasia. Thus, the present report expands the phenotypic spectrum of this uncommon syndrome.

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A new case of Zimmermann‐Laband syndrome with mild mental retardation, asymmetry of limbs, and hypertrichosis

Cited by 19 publications

References 3 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?

Zimmermann–Laband syndrome with bilateral developmental cataract – a new association?

Expanding the phenotype of gingival fibromatosis–mental retardation–hypertrichosis (Zimmermann–Laband) syndrome

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