Disease: Ulna hypoplasia with mental retardation
- A case with bilateral radio-ulnar synostosis
- A new lethal neonatal short limb dwarfism
- Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation
- Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis
- Aminopterin-induced fetal malformation. Survival of infant after attempted abortion
- AN XXXXY CHROMOSOME ABNORMALITY
- Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome
- Brain malformation and autosomal trisomy
- Breakpoints around the HOXD cluster result in various limb malformations
- Clinical delineation of Giuffrè-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance
- Congenital radio-ulnar synostosis in a boy with Williams-Beuren syndrome
- De novo 21q interstitial deletion in a retarded boy with ulno-fibular dysostosis
- Diagnosis of Rett syndrome: can a radiograph help?
- Dyschondrosteosis and Madelung's deformity. Report of three kindreds and review of the literature
- Dyschondrosteosis associated with endocrine dysfunctions and mental deficiency
- Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness
- Hemimelia in Brachmann-de Lange syndrome (BDLS): a patient with severe deficiency of the upper and lower limbs
- Laurin-Sandrow syndrome with additional associated manifestations
- Malformation-retardation syndrome with bilateral absence of the 5th rays in both hands and feets, cleft palate, malformed ears and eyelids, radioulnar synostosis (author's transl)
- Meitens' syndrome
- Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type
- Mirror image duplication of the hands and feet: report of a sporadic case with multiple congenital anomalies
- Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome
- Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis
- On the transverse dysplasia of the extremities
- Orthopaedic manifestations of Brachmann-de Lange syndrome: a report of 34 patients
- Phenotype of 49,XXYYY
- Polysynostosis: the association of extracranial synostosis and craniostenosis
- Radio-ulnar synostosis in Williams syndrome. A frequently associated anomaly
- Radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation
- Radiological features in Brachmann-de Lange syndrome
- Roberts syndrome with normal cell division
- Severe coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants
- Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism
- Tau syndrome (thrombocytopenia and absent ulnar) with mental retardation and facial dysmorphy
- The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12
- THE XXXXY SYNDROME
- Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation
- Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene
- Undescribed cranio-auriculo-radial syndrome
- Upper limb abnormalities in mosaic trisomy 8 syndrome
- XXXY chromosomal abnormality in a child