Familial posterior helical ear pits

Amt American Journal of Medical Genetics 43:639 (1992)

Letter to the Editor Familial Posterior Helical Ear Pits The proposita is a healthy and developmentally normal 2-year-old girl; she has a single PHEP of the left pinna (Fig. 1). Her father is an arguably normal man, One of us (D.J.A.) read with great interest Best’s re- who has two PHEP of the right pinna (Fig. 2). The cent report on familial posterior helical ear pits (PHEP) proposita’s mother and paternal grandfather, aunts, and Wiedemann-Beckwith syndrome (WBS) [Best, and uncle do not have PHEP; her paternal grandmother 19911; we commend his meticulous observations and died before being examined for this trait. descriptions. We have had an opportunity to observe this family at Best notes, “Except for assertions by Wiedemann length, inasmuch as we are the above-mentionedpropo[1973], there have been no other reports of normal indi- sita (L.L.A.) and her father (D.J.A.).No relatives in our viduals (without family ties with WBS cases) with family are known to have WBS, and apart from a birthPHEP,” thereby suggesting that Best’s family IV would weight of 4,175 gin one of us (D.J.A.)and the presence of be the first reported instance of familial PHEP not asso- congenital medial telangiectatic nevi (“angel’s kisses”) ciated with WBS. However, Curry and Arabian [19891 of the upper lip and right eyelid in the other, we know observed minor anomalies of the posterior aspect of the of no findings in either of us that would be compatible pinnae in 4 parentkhild pairs, including 1 pair with with WBS. PHEP. We wish to add a third such report: As Best’s report illustrates so well, it remains to be seen whether any children with ‘‘full-blown’’WBS are eventually born into our family, or into the family described by Curry and Arabian. However, for the moment, we conclude that PHEP may occur as an isolated familial (probably dominant) trait, with no known relationship to WBS.

To the Editor:

REFERENCES Best LG (1991): Familial posterior helical ear pits and WiedemannBeckwith syndrome. Am J Med Genet 40:188-195. Curry CJR, Arabian L (1989): Pits, creases and dimples: Examining the backs of ears. Proc Greenwood Genet Cent 8:183-184. Wiedemann HR (1973): Uber das “Kerbenohr” beim ExomphalosMakroglossie-Gigantismus-Syndrom,iiber Ohrlappchen-Fistelnund iiber das Vorkommen entsprechender Erscheinungen bei andenveitigen Syndromen sowie bei Gesunden. Z Kinderheilk 115:95-110 (cited by Best [19911).

Fig. 1. Posterior aspect of left pinna of proposita, showing single PHEP (arrow). Fig. 2. Posterior aspect of right pinna offather of proposita, showing two PHEP (arrows).

Fkceived for publication September 18, 1991 Address reprint requests to David J. Aughton, M.D., Division of Genetics, Department of Pediatrics, William Beaumont Hospital, 3601 W. Thirteen Mile Rd., Royal Oak. MI 48073.

0 1992 Wiley-Liss, Inc.

Laura L. Aughton (no academic affiliation) Birmingham, Michigan David J. Aughton Division of Genetics, Department of Pediatrics William Beaumont Hospital, Royal Oak, Michigan