Disease: Short limbs abnormal face congenital heart disease
- A Case of Noonan Syndrome and Kyrle Disease: Casualty or Causality?
- A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome
- A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome
- A new syndrome. Short limbs, abnormal facial appearance, and congenital heart defect
- A novel mutation in a mother and a son with Aarskog-Scott syndrome
- A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations
- A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics
- Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3
- Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies
- Duplication 7p in a family with t(7;11): association with anomalies of the anterior cranial base
- Facial erythema associated with short stature, absent distal phalanx, dental and nail anomalies: case report and neuropsychological profile
- Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome
- Floating-Harbor syndrome: case report
- Fryns syndrome: two further cases without lateral diaphragmatic defects
- Growth retardation, distinct oriental-like facies, glaucoma, brachydactyly, ventricular septal defect and speech disorder. An unknown entity
- Interstitial deletion of chromosome 1 (q23-q25). Report of a case
- Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder?
- Mild "duplication 6q syndrome": a case with partial trisomy (6)(q23.3q25.3)
- Neurocutaneous melanosis with transposition of the great arteries and renal agenesis
- Noonan syndrome, moyamoya-like vascular changes, and antiphospholipid syndrome
- Partial trisomy 8p (8p11.2-->pTER) and deletion of 13q (13q32-->qTER): case report
- Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II
- Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review
- Small terminal 10q26 deletion in a male patient with Noonan-like stigmata: diagnosis by cytogenetic and FISH analysis
- Surgical closure of an atrial septal defect in an 11-year-old girl with Silver-Russell syndrome
- Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome
- Trisomy 11q. Individualization of a new syndrome
- Trisomy 3 (p23-pter) resulting from maternal translocation, t (3 ; 4)(p23 ; q35)
- Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?
- Type 1 diabetes in a patient with Ellis-van Creveld syndrome