An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping Bamforth syndrome, ANOTHER syndrome and methimazole embryopathy
Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2;12)(p25.1;q24.1)
Further delineation of mandibulofacial dysostosis: Toriello type
Kabuki syndrome: a review study of three hundred patients
Syndromic dystelephalangy
Male siblings with dyserythropoiesis, microcephaly and intrauterine growth retardation
Microdeletion 22q11.2, Kousseff syndrome and spina bifida
Facial appearance in glycogen storage disease type III
Sotos syndrome: two cases with severe scoliosis
Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings
Guadalajara camptodactyly syndrome type I: report on a new case
DOOR syndrome: report of three additional cases
Bilateral anophthalmia and oesophageal atresia in a newborn female: a new case of the Anophthalmia-Oesophageal-Genital (AEG) syndrome
Unilateral split foot, torticollis, congenital heart defect and hydrocephaly: a new syndrome?
Auriculo-condylar syndrome or new syndrome?
46,XY,der(3)t(1;3)(q23;p22): double aneuploidy at a new breakpoint
Bowen-Conradi syndrome in non Hutterite infant
Bowen-Conradi syndrome
Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome