Further delineation of the 3‐M syndrome with review of the literature

Hennekam, Raoul C. M.; Bijlsma, J. B.; Spranger, J.

doi:10.1002/ajmg.1320280127

Cited by 35 publications

(46 citation statements)

References 7 publications

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“…[Tanner et al, 1975;Hennekam et al, 1987;Hersch et al, 1994;Graham and Rimoin, 1996]. Some craniofacial features in the Meier-Gorlin syndrome are reminiscent of craniofacial dysostosis [Gorlin et al, 1990].…”

Section: Discussionmentioning

confidence: 95%

The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs

Loeys

Lemmerling

Mol³

et al. 1999

Am. J. Med. Genet.

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The Meier-Gorlin syndrome, first described by Meier and Rothschild [1959: Helv Paediatr Acta 14:213-216] and further delineated by Gorlin et al. [1975: A Selected Miscellany, p 39-50], is characterized by short stature, slender body build, craniofacial anomalies, microtia, delayed skeletal development, hypogonadism, and absence of the patellae. It has also been called the ear-patella-short stature syndrome [Boles et al., 1994: Clin Dysmorphol 3:207-214]. We report on two brothers with Meier-Gorlin syndrome, the younger of whom was more severely affected. Both patients had severe deafness and congenital labyrinthine anomalies, which have not previously been described as features of this syndrome. The neuromotor and mental development of these patients was adversely affected by late diagnosis, deafness, and their sociocultural environment, but their cognitive ability fell within the range observed in other Meier-Gorlin patients. Neuroradiographic imaging and functional inner ear investigations are recommended in the diagnostic workup of this rather specific, probably autosomal recessive mental retardation syndrome with multiple congenital anomalies.

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Section: Discussionmentioning

confidence: 95%

The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs

Loeys

Lemmerling

Mol³

et al. 1999

Am. J. Med. Genet.

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“…The distinctive unusual pigment and bone dysplasia develop over time. Syndromes with IUGR include those with large heads, those with diagnostic laboratory tests, and those with specific physical features, such as: * Russell-Silver syndrome, 3-M syndrome [Hennekam et al, 1987], SHORT syndrome [Sorge et al, 1996], and Floating Harbor syndrome all have IUGR, but have normal for age (therefore disproportionately large) head sizes. * Antley-Bixler syndrome, Cornelia de Lange syndrome, and Dubowitz syndrome have IUGR, microcephaly, characteristic facies, specific anomalies, and unique natural histories.…”

Section: Differential Diagnosismentioning

confidence: 99%

Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings

Hall

Flora

Scott

et al. 2004

American J of Med Genetics Pt A

141

236

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A description of the clinical features of Majewski osteodysplastic primordial dwarfism type II (MOPD II) is presented based on 58 affected individuals (27 from the literature and 31 previously unreported cases). The remarkable features of MOPD II are: severe intrauterine growth retardation (IUGR), severe postnatal growth retardation; relatively proportionate head size at birth which progresses to true and disproportionate microcephaly; progressive disproportion of the short stature secondary to shortening of the distal and middle segments of the limbs; a progressive bony dysplasia with metaphyseal changes in the limbs; epiphyseal delay; progressive loose-jointedness with occasional dislocation or subluxation of the knees, radial heads, and hips; unusual facial features including a prominent nose, eyes which appear prominent in infancy and early childhood, ears which are proportionate, mildly dysplastic and usually missing the lobule; a high squeaky voice; abnormally, small, and often dysplastic or missing dentition; a pleasant, outgoing, sociable personality; and autosomal recessive inheritance. Far-sightedness, scoliosis, unusual pigmentation, and truncal obesity often develop with time. Some individuals seem to have increased susceptibility to infections. A number of affected individuals have developed dilation of the CNS arteries variously described as aneurysms and Moya Moya disease. These vascular changes can be life threatening, even in early years because of rupture, CNS hemorrhage, and strokes. There is variability between affected individuals even within the same family.

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“…DD likely manifests autosomal dominant inheritance, while the 3-M syndrome is thought to be an autosomal recessive entity (due to reports of consanguinity, normal parental stature, and affected siblings) [Hennekam et al, 1987;Meo et al, 2000;van der Wal et al, 2001]. The review paper of Hennekam et al [1987] discussed 22 patients with the 3-M syndrome.…”

Section: Discussionmentioning

confidence: 95%

“…The review paper of Hennekam et al [1987] discussed 22 patients with the 3-M syndrome. It has been postulated that some 3-M heterozygotes manifest variable features of the syndrome, as there are two reports of fathers having facies similar to those of their affected children [Miller et al, 1975;Hennekam et al, 1987].…”

Section: Discussionmentioning

confidence: 98%

Spectrum of dolichospondylic dysplasia: Two new patients with distinctive findings

et al. 2002

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Dolichospondylic dysplasia (DD) is a rare skeletal dysplasia primarily characterized by tall vertebral bodies and disproportionate short stature. Radiographic manifestations include tall vertebral bodies and gracile bones of the hands. Patients usually have eye and ear findings in addition to borderline mental retardation; however, tall vertebral bodies and slender tubular bones are also seen in the 3-M syndrome. Patients with the 3-M syndrome have a characteristic face with a triangular shape, frontal bossing, a flattened malar region, full eyebrows, a short nose with a bulbous tip, upturned nares, and full lips. We present two unrelated patients who share a distinct phenotype and have tall vertebral bodies, overtubulation of long bones, and short tubular bones of the hands and feet. We discuss the overlapping and distinguishing features between DD and the 3-M syndrome. Patient 1 was a 13-year-old female, and patient 2 was an unrelated adult female. These patients had normocephaly and short stature. They shared a common phenotype consisting of mild malar hypoplasia, a narrowed nasal body with a fleshy tip, full lips, and normal intelligence. In addition, they showed mild hand and foot abnormalities. These two patients lack many of the typical clinical features of both DD and the 3-M syndrome. They share a common phenotype and likely represent a distinct disorder. The spectrum of disorders with tall vertebral bodies as a key feature may include different entities that may be further defined with the characterization of the molecular defect(s).

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Further delineation of the 3‐M syndrome with review of the literature

Cited by 35 publications

References 7 publications

The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs

The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs

Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings

Spectrum of dolichospondylic dysplasia: Two new patients with distinctive findings

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