Postaxial acrofacial dysostosis syndrome

Miller, Marvin E.; Fineman, Robert M.; Smith, David W.

doi:10.1016/s0022-3476(79)80285-1

Cited by 93 publications

(46 citation statements)

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“…Distinctive manifestations included cup-shaped ears, cleft lip and/or palate, coloboma of the eyelids, accessory nipples, and low-arch dermatoglyphics. The upper and lower limb defects all show predominantly postaxial ray deficiencies, although there is some variability such as absence or incomplete development of the 5th digital rays [Miller et al, 1979;Fryns and Van den Berghe, 19881. In addition, preaxial defects of the upper limbs are commonly observed to a lesser degree.…”

Section: Discussionmentioning

confidence: 99%

“…The Genee-Wiedemann syndrome [Lewin and Opitz, 19861 or postaxial acrofacial dysostosis syndrome (POADS) [Miller et al, 19791 is an autosomal recessive multiple congenital anomalies syndrome of AFD with lower limb anomalies. The patients have predominantly an absence or incomplete development of the 5th digital rays and, to a lesser degree, some preaxial defects [Genee, 1969;Miller et al, 1979;Meinecke and Wiedemann, 19871. Traditionally, this syndrome has been differentiated from Nager syndrome or Nager AFD [Miller et al, 1979;Halal et al, 19831, whichinvolves AFD with preaxial upper limb defects without or with minor lower limbs involvement.…”

Section: Introductionmentioning

confidence: 99%

“…The patients have predominantly an absence or incomplete development of the 5th digital rays and, to a lesser degree, some preaxial defects [Genee, 1969;Miller et al, 1979;Meinecke and Wiedemann, 19871. Traditionally, this syndrome has been differentiated from Nager syndrome or Nager AFD [Miller et al, 1979;Halal et al, 19831, whichinvolves AFD with preaxial upper limb defects without or with minor lower limbs involvement. Recently, Opitz [19871 postulated that Nager AFD represents an "anomaly" rather than a syndrome because its apparent causal heterogeneity.…”

Section: Introductionmentioning

confidence: 99%

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New acrofacial dysostosis syndrome in 3 sibs

1990

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We performed clinical and autopsy studies on 3 sibs with an acrofacial dysostosis (AFD) syndrome. All 3 died neonatally from respiratory complications derived from their severe mandibular hypoplasia. They presented a malformation syndrome characterized by mandibulofacial dysostosis, predominantly preaxial limb deficiencies, rare postaxial limb anomalies, shoulder/pelvis girdle hypoplasia, and cardiac and CNS malformations. This syndromal form of AFD could represent a distinct entity with autosomal-recessive inheritance. Its delineation from other AFD syndromes is discussed.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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New acrofacial dysostosis syndrome in 3 sibs

1990

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“…Most cases are (n = 22) sporadic. Some appear to represent autosomal recessive cases [Miller et al, 1979;Fineman, 1981 [Robinow et al, 19861.…”

Section: Patientmentioning

confidence: 99%

Acrofacial dysostoses: Review and report of a previously undescribed condition: The autosomal or X‐linked dominant catania form of acrofacial dysostosis

Opitz¹,

Mollica²,

Sorge³

et al. 1993

Am. J. Med. Genet.

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The acrofacial dysostoses (AFDs) are a heterogeneous group of disorders combining defects of craniofacial and limb development. The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genée-Wiedemann or Miller syndrome. The former appears to be about twice as common as the latter with well-documented autosomal dominant and recessive occurrences in both conditions. Only 1 AD occurrence of POADS is known, but 5 sets of sibs are suggestive of AR inheritance. Heterogeneity of apparently nonsyndromal AFD of both types is powerful support for the hypothesis that the AFDs are polytopic field defects arising during blastogenesis. Six other previously described forms of AFD include the AFD syndrome of Kelly et al. (AR), the Rodríguez or Madrid form of AFD (AR or XLR), the Reynolds or Idaho form of AFD (AD), the Arens or Tel Aviv type of AFD (AF?), the presumed AR AFD syndrome of Richieri-Costa et al., and the AD Patterson-Stevenson-Fontaine syndrome. Here we review the AFDs and report on a previously apparently undescribed autosomal or X-linked dominant form of AFD with mental retardation in a Sicilian mother and her 4 sons.

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“…4 Deformitas pada muka yang sering terjadi meliputi bibir sumbing bilateral, celah mulut, hidrosefalus, mikrosefalus, asimetris ensefalokal, meningokal. Sedangkan kelainan mata meliputi celah palpebra koloboma, mikroptalmia, anoftalmia, dan kekeruhan kornea.…”

Section: Laporan Kasusunclassified

Amniotic Band Syndrome (distruption)

Hartoyo¹,

Yunanto²

2016

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A mulai umur kehamilan 3 bulan, mendapat vitamin Obimin selama 3 bulan dan imunisasi TT dua kali. Selama hamil tidak penah minum jamu. Pada pemeriksaan fisik didapatkan meningoensefalokal pada regio temporoparietal kanan diameter 5x10 cm. Pada mata dijumpai eksoftalmus bilateral, kornea keruh, dan ditemukan facial cleft bilateral, gnatopalatoschizis. Jantung dan paru dalam batas normal demikian pula pada pemeriksaan abdomen. Pada anggota gerak ditemukan pseudosindaktili (Gambar 1,2 dan 3). Hasil pemeriksaan laboratorium menunjukkan kadar hemoglobin 14,7 g/dl, leukosit 9.700/µl dengan hitung jenis normal. Hasil CT-scan kepala menunjukkan meningoensefalokal kanan dan perdarahan intraventrikular. Pengobatan yang diberikan terdiri dari D5%/4 normal saline 100 cc/kg berat badan/hari, cefotaksim 100 mg/kg berat badan/hari dan salep mata kloramfenikol. DiskusiAmniotic band syndrome mempunyai banyak variasi kelainan fisik. Kelainan paling sering mengenai ektrimitas, tetapi bisa meliputi banyak organ yaitu kaki, kepala, muka, dan organ dalam. Kelainan yang terjadi sebagian besar unilateral. Kira-kira 30% sindrom ini mengenai ektrimitas berupa pseudosindaktili, talipes, miksedema dan fraktur. Pada keadaan yang berat sering terjadi kombinasi kelainan pada ektrimitas dan mniotic band syndrome/distruption (ABS) adalah kelainan morfologis dari sebagian organ tubuh akibat faktor ektrinsik (bukan kelainan kromosom) yang pada awal proses perkembangan organ normal, tetapi dalam perjalanannya terjadi penyimpangan. Insiden kelainan ini di Amerika Serikat satu diantara 10.000 bayi baru lahir.1 Sampai sekarang tidak kurang dari 600 kasus telah dilaporkan. Tidak terdapat perbedaan angka kejadian antara lakilaki dengan perempuan.2 Dalam makalah ini akan dilaporkan seorang bayi laki-laki baru lahir dengan diagnosis ABS. Laporan KasusSeorang bayi laki-laki baru lahir dirawat di RSUD Ulin Banjarmasin dengan ABS. Bayi lahir di RSUD Ulin Banjarmasin dari ibu berumur 29 tahun, G4P3A1, kehamilan cukup bulan dengan berat badan lahir 3000 gram, ditolong dokter spesialis kandungan. Saat lahir ketuban dipecahkan, air ketuban jernih, nilai APGAR menit pertama 7 dan menit kelima 9. Riwayat antenatal; ibu kontrol teratur ke bidan di Puskesmas Amniotic band syndrome (ABS) merupakan kelainan genetik yang mempunyai variasi yang luas. Insidens ABS sekitar satu per 10000 kelahiran hidup. Selama ini telah dilaporkan sekitar 600 kasus di luar negeri. Sindrom ini meliputi kepala asimetris meningoensetalokel, eksoftalmus, kekeruhan kornea, facial cleft bilateral, gnatopalatosisis, pseudosindaktili dan kelainan organ dalam berupa omfalokal dan gastrosisis. Dilaporkan seorang bayi laki-laki baru lahir dengan diagnosis amniotic band syndrome di RSUD Ulin Banjarmasin.Kata kunci: bayi baru lahir, amniotic band syndrome.

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Postaxial acrofacial dysostosis syndrome

Cited by 93 publications

References 1 publication

New acrofacial dysostosis syndrome in 3 sibs

New acrofacial dysostosis syndrome in 3 sibs

Acrofacial dysostoses: Review and report of a previously undescribed condition: The autosomal or X‐linked dominant catania form of acrofacial dysostosis

Amniotic Band Syndrome (distruption)

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