Brief clinical and laboratory observationMacrocephaly with multiple lipomas and hemangiomas†,††
References (8)
- et al.
Macrocephaly in association with unusual cutaneous angiomatosis
J Pediatr
(1975) - et al.
Congenital and genetic skin disorders with tumor formation
Birth Defects: Original Article Series
(1974) - et al.
Familial multiple lipomatosis
Canad Med Assoc J
(1975) - et al.
Hereditary multiple lipomatosis
J Hered
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Cited by (83)
Neuronal Proliferation
2018, Volpe's Neurology of the NewbornPTEN hamartoma tumor syndrome
2015, Handbook of Clinical NeurologyCitation Excerpt :CS was named after Rachel Cowden, a young woman presented in the medical literature by Lloyd and Dennis in 1963 with a collection of features which came to be understood as components of this rare syndrome (Lloyd and Dennis, 1963). BRRS is sometimes referred to as Bannayan–Zonana, Riley–Smith, or Ruvalcaba–Myhre–Smith syndrome; all names come from the clinicians who reported on patients with unifying features early in the literature (Riley and Smith, 1960; Bannayan, 1971; Zonana et al., 1976). In the Dutch population, 22 persons were noted as having PHTS within a national database of 4.5 million people, leading the authors to estimate a disease frequency of 1 in 200 000–250 000 persons (Nelen et al., 1999).
PTEN hamartomatous tumor syndromes (PHTS): Rare syndromes with great relevance to common cancers and targeted drug development
2007, Critical Reviews in Oncology/HematologyCitation Excerpt :However, pathogenesis may be different in the childhood variant of LD, as the pathway was not constitutively active in these cases [46]. BRRS is an autosomal dominant condition that was initially reported by Riley and Smith, but was further refined by Bannayan, Zonana, and Ruvalcaba [47–49]. It is also known as Bannayan–Zonana syndrome (BZS), Ruvalcaba–Mhyre syndrome, and Riley–Smith syndrome.
Hereditary colorectal cancer - Part II
2005, Current Problems in SurgeryMacrocephaly and multiple hamartoma: A very variable entity
2004, Archives de Pediatrie
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These studies were supported in part by United States Public Health Service grants (5 RO1 HD05624, HD00417-05, 5T22-DE00102-02), and research and Birth Defects Center Grants from the National Foundation-March of Dimes.
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Presented in part at the Annual Meeting of the American Society of Human Genetics Baltimore, Oct., 1975.