Rita Gilman Harper (1934 – present) is an American pediatrician. She is eponymously known for her description of Harper syndrome, a recognised variant of Seckel syndrome.


Biography
  • 1934 – Born 31 August
  • Department of Pediatrics, State University of New York, Downstate Medical Center
  • Department of Pediatrics, North Shore University Hospital-Cornell University Medical College, Manhasset, New York

Medical Eponyms
Harper syndrome (1967)

[Also known as: Seckel syndrome; microcephalic primordial dwarfism; bird-headed dwarfism; Harper’s syndrome; Virchow-Seckel dwarfism; bird-headed dwarf of Seckel] 

Harper syndrome is an extremely rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic ‘bird-headed’ facial appearance. [OMIM #210600]

First early descriptions were by Virchow in 1882 and 1892. He characterized this type of dwarf as “bird-headed” or “nanocephalic”. By the former term he referred to the associated largeness of the eyes, beak-like protrusion of the nose, narrowness of the face and recession of the lower jaw and chin.

1960 – Helmut Paul George Seckel (1900-1960) produced the definitive 250 page publication on 2 of his own cases as well as 13 reliable and 11 less reliable cases from the literature. 

1967 – Harper reported on a brother and sister who strikingly resembled Seckel’s cases 1 and 2; 2 other reported cases; and the 3 sibs reported by McKusick also in 1967.

We have recently studied two siblings who bear a striking resemblance to several of the patients described by Seckel. The purpose of this paper is to report our two siblings, tabulate their more subtle recurring anomalies, and compare their complex pattern of altered morphogenesis within the broad classification of “bird-headed dwarfs.”

Harper, 1967
Harper syndrome (1967) bird-headed dwarfism
Harper, 1967; AA aged 6 (left) and EA aged 3 (right).

Major Publications

References

Biography

Eponym


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eponym

the person behind the name

Graduated from Cardiff Medical School in 2017 with MBBCh and BSc in Psychology and Medicine. Currently working as a doctor in the emergency department at Sir Charles Gairdner Hospital in Perth, Australia.

Emergency physician MA (Oxon) MBChB (Edin) FACEM FFSEM with a passion for rugby; medical history; medical education; and asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books |

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