Further delineation of the Beemer–Langer syndrome using concordance rates in affected sibs

Lurie, Iosif W.

doi:10.1002/ajmg.1320500403

Cited by 14 publications

(10 citation statements)

References 32 publications

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“…As mentioned previously, most types of OFD syndrome are associated with a bifid or cleft tongue and oral hamartoma [Bell, 1971;Whelan et al, 1975;Gurrieri et al, 1992;Driva et al, 2004]. In addition, hyperimmunoglobulin E syndrome [Dewitt et al, 2006], trisomy 7 mosaicism [Hodes et al, 1981], Beemer-Langer syndrome (or Short Rib-Polydactyly syndrome, type IV) [Lurie, 1994], and fibrochondrogenesis [Hunt and Vujanic, 1998] are other conditions that can occasionally have a bifid tongue. Syndromes outlined above do not represent diagnostic possibilities for our patient in light of their specific clinical manifestations, laboratory findings, and/or inheritance pattern.…”

Section: Discussionmentioning

confidence: 96%

Bifid tongue: A rare feature associated with infants of diabetic mother syndrome

James

Culver

Hall

et al. 2007

American J of Med Genetics Pt A

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Infants born to diabetic mothers (IDM) are well documented to have a higher rate of congenital malformations. Sacral agenesis/hypogenesis and caudal dysgenesis are classically linked to maternal diabetes, but many other types of anomalies are more frequent. In this case report, we describe a male infant born to a diabetic mother who in addition to other typical congenital abnormalities was born with an impressive bifid tongue. Accompanying congenital anomalies include unilateral microphthalmia, bilateral microtia, cleft palate, micropenis with unilateral cryptorchidism, bilateral radial hypoplasia, unilateral pre-axial polydactyly, and mid-line central nervous system defects including arhinencephaly and pituitary hypoplasia. Review of the literature reveals an additional case of an infant with a bifid tongue born to a diabetic mother [Comess et al., 1969]. In conclusion, bifid tongue without oral hamartoma, a rare congenital anomaly, can be an associated finding in IDM.

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Section: Discussionmentioning

confidence: 96%

Bifid tongue: A rare feature associated with infants of diabetic mother syndrome

James

Culver

Hall

et al. 2007

American J of Med Genetics Pt A

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“…Short‐rib syndrome, Beemer–Langer type, which had some common characteristics seen in the family presented here, especially short, wavy ribs, but with much shorter ribs and metaphyseal changes (9).…”

Section: Discussionmentioning

confidence: 60%

Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome

et al. 2002

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We report on a 'new' lethal familial short-limb bone dysplasia associated with multiple anomalies in three sibs born to Arabic-Muslim consanguineous healthy parents. Clinical abnormalities included short limbs and short hands, cloverleaf skull, frontal bossing, wide anterior fontanel, hypertelorism, bilateral microphthalmia, cataract, low-set ears, narrow chest, ambiguous genitalia, cardiac ventricular septal defect (VSD) and agenesis of the corpus callosum. Radiological abnormalities included cloverleaf skull, hypoplastic clavicles and scapulae, thin, wavy cupped ribs, flat vertebral bodies with coronal clefting and several unossified vertebral pedicles and hypo-ossification of the pubic bone. The main changes noted in the long bones consisted of short-bowed long bones with abnormal metaphyses and unossified epiphyses. Chondro-osseous morphology documented degenerating chondrocytes with disorganization of the hypertrophied cartilage and short disorganized columns of hypertrophied areas. An autosomal recessive mode of inheritance seems most likely.

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“…Polydactyly was once considered to be one of the most impor-tant characteristics to separate the Beemer-Langer from the Majewski type. Yang and colleagues 12 , however, provided a detailed radiographic description of a case classified as the Beemer-Langer type but which presented with polydactyly. A similar case was reported by Lin and colleagues 8 , characterized by microcephaly, flat face, hypertelorism, median cleft lip, short ribs and limbs in combination with polydactyly.…”

Section: Discussionmentioning

confidence: 99%

Early transvaginal ultrasonographic diagnosis of Beemer‐Langer dysplasia: a report of two cases

Hollander¹,

Harten²,

Laudy³

et al. 1998

Ultrasound in Obstet & Gyne

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The early second-trimester sonographic diagnosis of two infants with short rib (polydactyly) dysplasia type IV (Beemer-Langer dysplasia) is presented. In addition to short ribs, this syndrome is characterized by short limbs with or without polydactyly. There are often associated defects, particularly neural-tube anomalies. The occurrence of consanguinity and of four affected siblings in this family support autosomal recessive inheritance.

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Further delineation of the Beemer–Langer syndrome using concordance rates in affected sibs

Cited by 14 publications

References 32 publications

Bifid tongue: A rare feature associated with infants of diabetic mother syndrome

Bifid tongue: A rare feature associated with infants of diabetic mother syndrome

Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome

Early transvaginal ultrasonographic diagnosis of Beemer‐Langer dysplasia: a report of two cases

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