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Clinical Dysmorphology|July 19, 2003
Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotoniaEva Morava, Oliver Bartsch, Márta Czakó, et al.
Clinical Dysmorphology|July 19, 2003
Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndromeCheryl Longman, John Tolmie, Robert McWilliam, et al.
Clinical Dysmorphology|July 19, 2003
Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case reportFulvio Parentin, Paolo Perissutti
Clinical Dysmorphology|July 19, 2003
Noonan syndrome associated with unilateral iris coloboma and congenital chylothorax in an infantD R Carvalho, V V B Alves, A Minaré-Júnior, et al.
Clinical Dysmorphology|July 19, 2003
Chiari I malformation and caudal regression syndrome: a previously unreported associationR Shane Tubbs, Matthew D Smyth, W Jerry Oakes
Clinical Dysmorphology|July 1, 1992
Autosomal recessive Silver-Russell syndromeA S Teebi
Clinical Dysmorphology|April 1, 1992
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese casesN Philip, P Meinecke, A David, et al.
Clinical Dysmorphology|December 6, 2019
Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C geneDorota Jurkiewicz, Agata Skórka, Elżbieta Ciara, et al.
Clinical Dysmorphology|September 14, 2020
A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1Amir Peleg, Alina Kurolap, Lena Sagi-Dain, et al.
Clinical Dysmorphology|December 8, 2020
Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?Aleksandra Jezela-Stanek, Paulina Pokora, Marlena Młynek, et al.
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