Disease: Growth retardation mental retardation phalangeal hypoplasia
- 2q24-q31 deletion: report of a case and review of the literature
- A syndrome with midface asymmetry, defective modelling of the skeleton, catch-up growth and truncal obesity
- Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability
- Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH
- Coffin-Siris syndrome in a 5-year-old girl
- Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: a new autosomal recessive MCA/MR syndrome?
- Costello syndrome with decreased glucose tolerance
- Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome
- Distinct phenotype of PHF6 deletions in females
- Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter)
- Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter)
- Emergency cesarean in a patient with Coffin-Siris syndrome
- Fanconi's aplastic anemia, analysis of 18 cases
- Fetal hydantoin syndrome in siblings
- Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome
- How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
- Interstitial deletion of the long arm of chromosome 1, del(1)(q21 leads to q25) in a profoundly retarded 8-year-old girl with multiple anomalies
- Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance
- Mental retardation, short stature, almond-shaped eyes, small downturned mouth and coned epiphyses: a new case of Hunter-Fraser syndrome
- Molecular insight into CREBBP and TANGO2 variants causing intellectual disability
- Muenke syndrome
- Polydactyly and fetal hydantoin syndrome: an additional component of the syndrome?
- Pre- and postnatal growth retardation--severe mental retardation--acral limb deficiencies with poorly keratinized nails. Another example of a distinct syndrome of inherited intrauterine dwarfism?
- Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome
- TBX2 gene duplication associated with complex heart defect and skeletal malformations
- The Coffin-Siris syndrome
- The Coffin-Siris syndrome: a case report
- The Coffin-Siris syndrome. A report of four cases and review of the literature
- The effects of phenytoin on rat development: an animal model system for fetal hydantoin syndrome
- The Langer-Giedion syndrome: report of a 22-year old woman
- Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities
- Trichorhinophalangeal syndrome. Apropos of a case
- Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome?
- Variant of Coffin-Siris syndrome or previously undescribed syndrome?
- X-linked mental retardation syndrome with characteristic "coarse" facial appearance, brachydactyly, and short stature maps to proximal Xq