Proximal femoral focal deficiency (PFFD) and fibular a/hypoplasia (FA/H): A model of a developmental field defect

Arnerican Journal of Medical Genetics 552427-4g2 (1gg5)

Proximal Femoral Focal Deficiency (PFFD) and Fibular A/tlypoplasia (FAIH): A Model of a Developmental Fietd Defect

Giovanni Sorge, Salvatore Ardito, Maurizio Genuardi, Vito Pavone, Renata RizzorGiovanni Conti, Giovanni Neri, Ben E.K;atz, and John M. Opitz Clinica Pediatrica-fc.s., R.R.), Catted,ra d'i Patotog_ia d.ell'Apparato Locomotore (5.A., and. Catted.ra d.í ortopedia (V.P-), (Jniuersità d'i Cata-nia,,Catanio,"Irtituto di Genetica Med.ica (M.G., G.C),(Jniuersità G.N.), Cattolíca d,el Sacro Cuore, Rome, Itaty; Twin Falls, Idaho (B.E.K.), and. Shod.air Hospital, iletei,à,-ind, Montana Stot" {Iniuersity, Bozeman, Montana, the [Jniuersity of Washington, Seattle, w"tiWi", ond, the (]ni,uersity of Wisconsin, Mad,ison, Wisconsin (J.M.O.)

Proximal femoral focal deficiency (pFFD) and fibular a/hypoplasia (EAH) a"ó distinct malformations of the lower limbs. Both can occur as isolated defects or in association with other limb malformations. In fact, fibular defects frequently are-fi;;;;ttt; present in PFFD

and, conversety, remór"l ;; be found in the presence of a typical nAH p_icture. T[e report on b patients with a variable combination of femoral and fibular defects. In one of them unilateral pFFD was associated with lateral foot defects, in the absence of fibular abnormalities, and with a phenotype similar to that observed in the femoral hypoplasia/unusual face sJrndrome (FMFS). Another patient had i"solated PFFD on one side, wilfr controlateral absence of femur, fibula, and tibia. Another patient had a PFFD, fibular hypoplasia, and abnormalities of fibular foot-àys, the last- 2 _patie_nts, a father and so"nr'had, "rrd respectively, bilateral foot malformationé PlY. fibular and tibial hypoplasia in thé father and a PFFD in the éór.. tfrese observations represent a further demonstration of the existence of a fibular develop-ur.t"l field, and contribute to the definitiàn of its spatial boundaries. The variable involvement of elements comprised in the developmental field can be explained by multifaà_

torial etiology.

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KEY WORDS: femoral hypoplasia, FFU complex, fibular field, femoral _ f,e9e-iv9{ for publication January 17,1g94; revision received July 15, 1994. reprint requests to Giovanni Sorge, M.D., Istituto di ^.Address clinica Pediatrica 1 dellUniversità di cataiia, città-ù"iversi_ taria, Viale Andrea Doria 6,95125 Catania, Italy.

@ 1995

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hypoplasia/unusual face s5rndrorne, developmental resistance

IIVTRODUCTION Proximal femoral focal deficiency (PFFD) and fibular ?/hypoplasia (FAH) are rare malfórmations. Although the cause of these conditions is heterogeneous, there is very often an overlap of clinical maniiestations, suggesting that these anomalies may derive from an alteiation of the lower limb developmentar field [Lewin and Opitz,1936l.

pFFD, one .We_re_p_ort on 5 patients, B affected with with FAH, and one with FH/UFS, who lend further support to the Lewin and Opitz t1g86l hypothesis.

CLIMCAL REPORTS Patient 1. This patient is a girl, second-born to nonconsanguineous parents. The mother had had 2 previous spontaneous miscarriages. paternal and maternal age were 34 and 31 years, respectively. An older brother is well. she was born at term by cesarean section after aqqîeyentfu]prggnaxgy.There is no history of mater_ nal diabetes. Birthweight was 2700 g (grd_lOth centile), length 47 cm(8rd-10th centile), occi[itofrontal head cir_ cumference (OFC) 84 cm (b0th cerriile). Since the first months of life weight gain was poor, and for this reason she-was hospitalized. At the same time she had repair for bilateral inguinal herniae. The patient was seen for the first time at age 4 months. Weight was 4000 g(