May 6 1961 caves the serum vitamin A was suboormal while tat of fnrotene wat witia gral init, ‘The role of vitamin ‘in los aed vatows ether skin cadiions aod is posible relationship. to. xquamous metaplasia and Cleinoet ae derated, The metabolersof tenn A fed iy Cancions ie maintaling, the integrity of ‘thea sracttes i sll poorly undersood. Some ‘Of the. possble genetic. mechanisms underying this tsocaton betwen ft serim vitamin A and fail fin dienes are oulined. | addition to the proposits, to other living members had Susained a myocardial infarction. FHypertotestrolemia and bypetlpaemia were noted fa several members, bot were. Unrated "0085 slinodseyly, or serum vitamin A, ‘Tyloss is tansmited via @ mosomeric autosomal lominaat gene with a high degree of peccruce. The apres of the condition 1 govemed to. ange xent by” evironental modifiers Climodatly IS fabertd as.a non seelinked Mendsiian dominant ith low penetance. "The explanation for the coexisience of two genetically detecmined eis is consiared, and in the eas of tole and linodacily we fs thatthe stsocation fe due ether to distant linkage o to the ‘rans beng on diferent chromosome pal We sr gate to Profesor O. A, Eliot, Profesor 1 Peco and Pofewar PV. Tai for adie ‘eerie clan: De. M. Palin Sou Ai Tewtue forMedit Reseab) who. cod out the chen esimitions; to the phobic unit of the Department of Neicne, Uneraty of the Witatesra, fe'hg Al thee anions Se reproduced bere Ua permision f the Ete of the South ren Medal Towa Ags BW, th Bom. fe Brey NG AIM, Beach” Maen dan TM Viemint Medan, 1 BER of Paley, 5h ol. Lex and tie! et sant Rabe its, KA 9) Cen ar See etd, ue Ua a en! Bit Largo ers nah is Dem. Soph a a, foe eg a8 28 Ht bli 5 se, . 0) Ame ee estar Aaa opi pe I nt | Moa ‘igo, G:Keud Asis Fe) 8A. med ES GO Ree Bae we cee ER Ba 9 mest emai Er hi. Mek Drm Sok (Een), 3, Marni A, ad Pa C957. At, Drm ph (Ba, AS, O°, ta onal CHF Moor 195) Vitamin 4. Evin Amsterdam. NeSaie ist dar med Ce" TYLOSI5 AND CLINODACTYLY snl 127 ecg Mk AW a Chari, (81) Ach, Dorm orice cascrowe ee av. Ain beg A104. tCham, 198, fe i 3 j st (Ae Leda Mat Gee, ASS Orerbe A.B. (80, Poe “as ish Ae beet Po ha eet oe uh enue se Ha baw om Sinan gc ae a aes BO Hetie f ee oe ay HEREDITARY BRANCHIAL DEFECTS IN A HAMPSHIRE FAMILY THOS. J. MUCKLE, MB, BS. Rosia in Patol, Royal Hampshire Couns Haspal °° inte ‘This paper reconds. the cccurense of mile ongslial brane sefsts ia teveral members of fay covering four geaeatons. A numberof similar Inherted anomali ave. bra. desrbed peti) bot in the partculr group tuliple eal ceri SSnues wee sociated wih maxillary malformations fand carpi combination WD does ot appa 19 have been cepried before. “Te gainer ofthe props was» Wilshire ma vit Gopher mae «apie farm lboure, noved taal ali aa Wit tm Pra os eine ints set eer ne "Toe iy rte comied 2 mee ye ed en [igo moe gousuedebgoaleToe steed persons ‘tee ganda hme two af i cers and oe Piicaect and three edios aod one grandee Satis four somal sed the nected reve Te Sing fe motes ntiay five afc pms wee fhe dado? wale a ee of gu. Te Seon fra tw nfo) ol ‘ing proved fm he mem of he lathes eral Suse. ba save tees toh upp no fot clk: ny are probly ‘cb "Thx prope Sr mere ah he pees oer eo {Feed ony ut tee not trpesig 2 tbo seal Tavlomatons ate gue wire "Toe carpi hen pres! were satel ia de unger ater dof he Being sat Im. wide ad me din" wate aed ayn gpa 286 Be tier "Shoe sere to ary abuoralii, sags Scent The appr Pantech rete fora a an {Sake of some 20% 30 ces oat he, ee aE Silay Rel cat ae te, The Bar ple EQS sched cto bth ee The ate ea fuer wee tpl Of er ed” The opening in he ‘Sin ere 13 Gamer and were slags ested {the stor ber seroma onl Hel ce a an poe Tn ay cee lite rote babes scolar un nm wee noe1298 May 6, 1961 becuse of tis tendency t eae ml quantities of car nike boat te ropa wat the ony Patan ‘Be up h Se me an rr ited yh ei ee osu 3 sls ih sped coun See bata i eery ag though oie tert oe "he tree acted meres prsnaly examined were the pean, fc ter i 3 aos ter Ca The feta of rae ne “The nese sis inv athe ee a he nena rare o etd aoe, Swit ote et wae ante le gee a ieee jan of the sapere tom mi the ih (hid eesge” The bother i Mas ara eat sas toot He adsense lertene abet Ii cm above he ane cava |Sleon ‘cach sermons mse; anther was jt fSte°ind shin the ef undies anes ane ¢ odes Wes" te nerioe anti to te ane te int Fates ea de al tthe same etl one ned on on fhe sian Ioerion of cath sommes. The father, tral once ‘ea ghey fhe propor mee Pers ‘Ruined an fund 1s be nora al espe ‘The fe aed members nat cram wee I 1 and who were both Se end 47H oad phone ioieout wate uitown, "The ail ered to Rave od Sica we sia nes thr es, gh alec 1 Spe ae rh bl set" aes ‘ot examined, but were suid to be onalested) Three spouses $01 Std th ns of) ade we a ewer ast net clay rested” Rosh the ater ‘tle tsi an howe oso Neither congenial lteral cervical sinoses nor capita fare neommon solted anomalies. ying (16) ‘beerved rps in 09% of sO Brith Sevie men, ‘and Sanus (1914) found them in 43% of 6201 Bans im Nylund. But they ato” uaobuusve, usually Nouble‘ee, aid dhs may pus unnoticed fr years by thes ouaer evens he's medially quaited Fourman ed Fourmas, 1959), ‘Aes (1958) sates that eartal search wil reveal a {amily history of fistula of esesnry toile, fm some 254 of case of Lateral cervical C branchial") ft HEREDITARY BRANCHIAL DEFECTS Previous reports of the courrene of such, lfm tions in several members of fury. lalude tose by Page: (1877, Kladeod (1921, Pees (1927), Whitney (Go50), Edmonds and Keeler (1580), Queprad (194), ‘Kinder (1938), Foutman aod Foutman (0959), snd Wilson (955) Nose of these mentioned an asiociated ‘igh techedpelte as appears in ths family. The ‘nly intance of dominant innertanoe of euch 4. defect ‘ven ny Gate (946) & nat ntegrl ine wellknown Sondiin of arachnodastyy, but one of the member of the above nly showed aa) ober spats of tat soe ‘When eargitt occur alone or with tera serve sinter oe the only ober ssnstated anomaly, te Sppnrentiy dominant inerianee shows lnomplce of ‘regia pencition (kindred, 19217 Eumonds utd Kecter 1880; Rork-Lewinss, cited by" Quelpad, 180) Sometimes "skipping of generations (Whitey 1933), or mayappear in only one of untvela twins (Quelpr, 1980)" However, when uriner concurrent Abvormalty is present such os deafness (Pressel, {927 Fourman and Fourman, 1959) or Bight palte 2 in this fol, the dominance seems o be enanced, $9 tha he peeirace of the combination as an eal comes mare complete. This funy report furer fenits "the vevJeoce of previous accounts 10 emossbatng that ater sex may” auaiest and tranamit‘beeiary branchial “developmental abnor For what such small numbers ae wert ia deduclag geoecharacerss, he proporion of 81 28 preealag here sonar simple dominant mode of inberiaace, tnd the paver of appearance of the efet throushot ‘he peigres strongly suppor tis form of tranamision Interest focuses atarlly upon the eomanguincoos Iariage betwcen the propovits and his cousin, ‘Ahough this woman came from an fected other, 11 weer she, TI 3, aoe ee daughiee, TV by the ropostus showed 2n9‘of hese defects ‘This wortaey St tie wile and daughier of tbe proposts admiealy Soult mean thatthe women wat omooygout ‘Seterozygnun rcesnve carr, tht IN 2 and ber ‘dughier were thortote heer) ous carriers But were this gene or haracter complex reese, the ptirm of traninsuion from the otter main could be expisined ‘tly by beteosygour persion of niente! receive {ator by no fener than four diferent unrelated spouts Sipe wife of Ty the band of TI the bawoand Of Way and the wife of HA This is wolifely, wheest ‘imple dominance expnine every maniferatinn a this sstect pater 1 would appear, ten, that the Hinkage betseen ibe chatter for itera cervsal nus and tht fr et pis ir ortinanly west ao tat the pt ny separte firing ‘mucear division, cfost ovet, and eres” mong normal gene Ta this reported family #8 thatthe advent of jet anetee aboarmal character, for ‘masilary defect has eonslidated the linkage hetmeen all de to produce complex which, when transite, benaves 354 ull dominant, — A funy of Siten person i descbed whersia eight members in thee generations exhibited clwey Led Congelal anomie. comprising multiple raachal tralforations and masilary dtecte The complex irevealed to have been inherited as » simple dorian ‘infenced by tex in ier tranumiion oF penetra: lon. The Igerstare it reviewed andthe heresy ‘econ am indeed to De W-D.Binton ofthe Roya Hampi Sesto tr ptr Fam gael oy cae in heir for thr comment and pa ii ae mn 4c ne an Folin PSP 750885 mat 12, Oo FSS catia eh Pecan aA ie ashram Clb eS PS Sete hr, an WERE HN) an Sn Cee at. Medical Memoranda A Case of Artificial Abdominal Urethra att i 1959 1 wat fortunate enough to see 3 demon sttaton by Lepides at Mchigwn Univerty, Homi ‘Ato Arbor, of toy iho, at result of factre of ihe pel, developed a ural stricture, and i whom the ‘ruthial cane ould not be eopened. "Ths eld Was asing bis rie Woush an abdominal urethra, Se artery cone sa ad coplte coaua vet ck io Mauris, Iwas confonted wih a simi senpal on yy 188 Salling rors» tere f th Seber Se det pai tnd asiae Mood pe ahr, Sin ous sop rote ofthe wa, wih ets ‘raton of blood heave of Reson and paren ‘pies, Sutera sec atenptsa er aro ‘Aol 1955 he bad de Pew cabeerdralning tbe nde ‘Stoney a supple eyavony owed Teche ueonagy hag a, am atmo seh ans "A&I hon an Ache unteusT he pos penance te {i vrtiora a opoelhe wade o"deackes win Ned coos cgue"An set of tbe aon Sader Tal esnetiy Tow Satins pes ua ped ot sanyo ane econ gooey af ‘Siohad In evo layers wits No. 2 stvomis caaut the nt favasitate The defect lo te Bhier sa sin ‘ose ‘Beube war peed trove te lnc baad tn, Huy HEREDITARY BRANCHIAL DEFECTS fiom the abdomialret, The mason of the mouth ofthe Whe tear ached tne am The ssn ‘om wes led in vee and the Sader wa Grae by {Tubber suite pune hough the att eh Tome Toe petst naz nce or ain "Att 1 fen Cater wat removed Te was then fo io Sit he ar n't int of dribbing down his abdominal wall Wiha a week ESSER AA nae ors oof to Bos thee When he was chased fiom the towgital on Jape 1 ew patty sonia When ic othe set {5 Gren he we lb cy cet, ad preset ooe Vere war a residual urine of about $m Seay SIE mi awe ot ee Stated 'nph‘tt he botlom of the aden am cet etd of Molla Sven Mats, fr is seston To path Me Sasi M8. BS, Sas, Vises oot Mant api 1 (185 2 Ute #8 Tor Mogan oF Lau Me Ja Ha, ae wad Ms Fatt Sanne Conenter on Ment alta Welle in'tte Drop Forging Indy. "Tbe funeicn of te cow vse che Minster on raters allecing the hese, intact of pene employed the Sir