Congenital Malformations Associated with Maternal Osteodysplasty

Theander, Georg; Ekberg, Olle

doi:10.1177/028418518102203b11

Cited by 20 publications

(12 citation statements)

References 14 publications

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“…The cases presented here and those previously described as MNS or OPD II have many anomalies in common. Craniofacial abnormalities are strikingly similar between the two syndromes but notably two of the reported cases of MNS have had proptosis [von Oeyen et al, 1982;Donnenfeld et al, 1987] and one with absent corneae [Theander et al, 1981] where similar anomalies were absent in our cases and in those with OPD II. Skeletal abnormalities such as an absent or hypoplastic fibula, flexed overlapping fingers, thin ribbon-like ribs, bowing of the long bones, and hypoplastic or absent great toes in conjunction with genitourinary malformations and omphalocele have been described with either diagnosis, prompting previous authors to suggest that these two syndromes may be allelic [Blanchet et al, 1993].…”

Section: Discussionsupporting

confidence: 70%

“…Over 40 cases have been described. Females with MNS display osteodysplastic manifestations and craniofacial anomalies, while males have a multiple congenital anomalies syndrome, lethal in the perinatal period [Theander et al, 1981;von Oeyen et al, 1982;Delaporte et al, 1985;Donnenfeld et al, 1987]. We know of no report of recurrence of the multiple congenital anomalies phenotype within one MNS kindred.…”

Section: Introductionmentioning

confidence: 99%

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Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred

et al. 1997

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Melnick-Needles syndrome (MNS) is a female-limited skeletal dysplasia inherited in a X-linked dominant pattern. Males born to women with MNS may exhibit lethal multiple congenital anomalies, but recurrence of this phenotype within one family has not been reported. Males with oto-palato-digital syndrome type II (OPD II) also demonstrate a multiple congenital anomalies phenotype that includes skeletal dysplasia but the maternal phenotype includes only mild craniofacial anomalies. These two syndromes have been suggested as being allelic despite differences in the described maternal phenotypes. We present a four-generation kindred in which four males had a consistent multiple congenital anomalies phenotype. The females in this family have skeletal changes characteristic of MNS but have only mild craniofacial anomalies and also deafness attributable to ossicular deformity, traits more commonly found in OPD II. The expression of manifestations of MNS and OPD II in males and females in this kindred further suggest that these syndromes are allelic.

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Section: Discussionsupporting

confidence: 70%

Section: Introductionmentioning

confidence: 99%

Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred

et al. 1997

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“…Xlinked inheritance with early lethality is suggested from the mild signs in the mother and possibly in the hemizygous abortions. Exophthalmos recorded in three of four previous reports of MLMNS [Theander and Ekberg, 1981;Von Oeyen et al, 1982;Deleporte et al, 1985;Donnenfeld et al, 1987] and eyeballs described as having no cornea with their entire visible surface being bluish-white in one report (Theander and Ekberg, 1981) are signs that possibly corresponded to congenital glaucoma as observed in our case. Thus, the ocular findings overlap with those seen in the MLMNS.…”

supporting

confidence: 66%

Infant with manifestations of oto-palato-digital syndrome type II and of Melnick-Needles syndrome

et al. 1999

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“…6 Case 1. The skull vault shows poor mineralisation, a olfactory bulbs and tracts, and a well circumscribed, coarse trabecular pattern, and an unusual stellate appearance in approximately spherical mass 2-5 cm in diameter in the parietal and occipital bones.…”

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confidence: 99%

Yunis-Varon syndrome with severe osteodysplasty.

Garrett

Berry

Simpson

et al. 1990

Journal of Medical Genetics

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We report two male sibs and two female sibs from separate families, both with normal parents, who had a lethal condition with features of the YunisVaron syndrome and radiological signs of severe osteodysplasty. Autosomal recessive inheritance is likely in both families. The additional features described represent further delineation of the phenotype of the Yunis-Varon syndrome.The Yunis-Varon syndrome was recently reviewed by Hennekam and Vermeulen-Meiners' who added a further case to the seven reported previously. The condition was first described in 1980 when Yunis and Varon2 reported five patients from three Columbian families with cleidocranial dysostosis, severe micrognathia, bilateral absence of the thumbs and first metatarsal bones, and distal aphalangia. They all died before 10 weeks of age. The presence of consanguinity in three of the families reported and the lack of sex predilection were thought to be consistent with autosomal recessive inheritance.The four patients whom we describe had similar hands and feet and similar facial features to those described in the Yunis-Varon syndrome. However, our cases did not have absent clavicles and one pair of sibs reported here had pathological fractures. All (fig 1) with prominent eyes and indentation of the temples. The corneal membrane over the outer part of the iris was opaque. The ears were low set with absent lobes, the nose was small, and the palate high arched. The chest was long and the liver and spleen were palpable. The kidneys were easily palpable but were normal on ultrasound examination. The testes were descended but the scrotum was bifid and there was coronal hypospadias. The hands and feet were particularly abnormal. The left thumb was absent, the right vestigial, and the fingers were short with very small nails (fig 2). The big toes were absent and the remaining toes short with poorly formed nails. The hips did not abduct fully. TORCH screen was negative and there was a normal male chromosome complement, 46,XY. CT scan showed a small mass thought to be a haematoma in the right parietal region.The radiographs (figs 3 to 6) showed the following features. The iliac wings were flared and there were constrictions in the supra-acetabular regions, producing notching of the lateral borders. The acetabula were short and sloping and there was coxa valga with bilateral hip dislocation (fig 3). The scapulae were abnormal, with constrictions adjacent to the glenoid fossae. The metaphyses of the long bones were flared. The long bone diaphyses and ribs were slender, with irregular, thickened cortices. In the hands (fig 4) and feet ( fig 5) the first metatarsals and metacarpals were absent, as were the phalanges of the thumbs and big toes. The distal phalanges of all the digits were absent, and the middle phalanges were absent or hypoplastic. There was an unusual coarse and stellate trabecular pattern of ossification in the parietal and occipital bones (fig 6).The baby had breathing difficulties initially and required oxygen for several days. At 3 mo...

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Congenital Malformations Associated with Maternal Osteodysplasty

Cited by 20 publications

References 14 publications

Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred

Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred

Infant with manifestations of oto-palato-digital syndrome type II and of Melnick-Needles syndrome

Yunis-Varon syndrome with severe osteodysplasty.

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