A case of human cyclopia resembling anophthalmia

A CASE

OF HUMAN CYCLOPIA ANOPHTHALMIA

BY CARL BACHMAN, (Frm

the

Obstetric

Clinic

of

Dr.

RESEMBLING

M.D., PHILADELPHIA,

Barton Cooke of Penn.sylvmia)

Hht,

Hospital

PA. of

the

Unhersity

R

ECENT literature contains few case reports either of anophthalmia or of human cyc1opia.n monsters. With cyclopia, this may be due to cases being seen and not reported, since HannoverV tabulation of 109 cases in 1883 has shown it to be a comparatively frequent type of monstrosity in man, The artificial producrtion of these monsters in lower orders has likewise been frequently accomplished by teratologists.15 There are interesting features in the case which I wish to report, making it desirable to record the data obtained despite omissions due to failure to secure a postmortem pathologic exa.mination. The maternal history is given in detail in order to present all the facts for their possible etiologic significance. Mrs. A. H., housewife, aged 21, Jewish, was registered at the Pre-Natal Clinic of the University Hospital May 14, 1926. CZinaC& History.-Had been healthy all her life except for a mild varicella as a child in Russia, and aearlatina at ten years of age. Family history, as also that of her husband, contained no instances of monstrosities or idiocy. Husband healthy and an abstainer from alcoholic liquors. Obstetric Hktor?J.-Married eighteen months. Had one spontaneous miscarriage and evacuation of at four months, fifteen months ago, requiring hospitalization the uterus with placental forceps. Present Pregnancy.-Last normal menstrual period July 27, 1925. The patient then had a “one-day period ” September 19, 1925, but noted none of the subjective phenomena of early pregnancy either before or immediately following this. Had no nausea, and failed to note the date of the first fetal movements. Had been feeling well. First examination: Weight 138 pounds. General appearance of good health; sluggish mentality. BIood pressure, 130 systolic; 80 diastolic. Fundus uteri soft and cystic, extending about 4 cm. above the umbilicus; excess of amniotic fluid suggested. Fetus small, head down and entering pelvis; back to left, fetal heart sounds below and to the left of the umbilicus. Placental bruit not noted. Pelvic measurements above normal limits, and vaginal examination negative for abnormal features. In view of these findings term was calculated from the September ‘ ‘ period, ’ ’ and was expected June 26, 1926. The patient made one more prenatal visit on June 2, at which time the fundus was about 6 cm. above the umbilicus. The increased amount of amniotic duid made the diagnosis of fetal position less certain at this time, but the head was well into the pelvis. The patient was feeling well. Urinalysis and blood Wassermann were negative. Labor progressed normally and delivery occurred rapidly and spontaneously, with the oociput emerging anteriorly. The cord was beating normally. No anomalies 797

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of labor were noted; there was no evidence of a low placentation, and routine examination of the cord and placenta disclosed no abnormalities or gross infarcts. The child breathed immediately, although with obvious ditllculty, and with an obstructive type of dyspnea due in part to a curtain-like flapping of the upper lip during respiration. Cyanosis was marked. The puerperium was entirely without event. The child lived nine hours, supported mainly by continuous oxygen feeding and various stimulants. During this time respirations were regularly and properly timed, although extremely labored. Cyanosis persisted. There was no suggestion of intracranial or medullary hemorrhage, and careful examination failed to disclose pulmonary atelectasis or other

Fig. l.-Case of human cycloPia. Full face view shows incomplete descent and separation of the orbits, corresponding to faulty development of the irontonasal The result is a long nose, with the septum not united with the goor of fhz%es (maxillary processes),. and the face as a whole suggesting the features of adult maturity. The orbits are shallow, and the eyeballs are miszling to gross There is but one median nostril. examination. cause for the cyanosis. struction interposed by the dioulty.

The the

obstructive upper lip

type of dyspnea was also obviously

was obvious, but the obnot the sole cause of

I)escr@tbn of Spe&nen,-Owing to the precarious state of the child’s health, incidental observations of its deformity were necessarily limited during life. Necropsy or preservation of the body was strenuously refused. Weight, 2670 gm. Estimated length of gestation about eight months. The neck, trunk and extremities appear to be everywhere fully developed and practically The skin is smooth and shiny, and covered with lanugo. The cranial mature.

BACHMAN

:

HUMAN

CYCLOPIA

RESEMBLING

AXOPHTHALMIA

799

bones are firm and closely apposed along the sutures. The hair of the head is from 2 to 3 cm. in length. The nails of the fingers and toes project beyond the digits. The head is not disproportionately small except for an obvious contraction of the frontooccipital diameter. Symmetery is present throughout. The anterior fontanelle measures less than 2 by 3 cm. The striking features of the face are the relatively high situation of the orbits, and their close approximation, giving the The nose is correspondingly longer than normal, appearance of adult maturity. the extra length being apportioned half between bone and cartilage, the latter hanging rather loosely from the bony bridge. The nose terminates below in a single, median nostril, about 4 mm. in diameter, flanked by flattened alae. Specular examination of the nares discloses no union of septum with floor. The superior maxillae are firmly united in the midline, as are also the bony palatai processes,

Mg. Z.-Case

occlPita1

of human cyelopia diameter,

Proffle is that of an due to shallowness of anterior

adult. fossa

Diminished of the skull.

fronto-

although the latter are ridged longitudinally, parallel to the alveolar processes. The eyelids are tightly closed but not fused. The eyelashes are normally formed. The orbits are extremely shallow, and eyeballs can neither be palpated against the bony orbits, nor demonstrated by prying open the eyelids. The conjunctival sacs appear to be lined by mucous membrane, which at the time of death has thrown off a thick mucoid secretion. The spine, anus and genitalia appear normal. RoeMenogram.-The outstanding features are : The shallowness of the anterior fossa of the skull, and the elevation, approximation and shallowness of the orbits. The superior maxillae appear to be fully and normally developed. The antra and the bony septum of the nose are present. The remainder of the skeleton is normally developed, although there is increased condensation of all long bones. m-a Wa.ssermamn.-Negative.

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An interesting speculation arises in accounting for this specimen either as an example of anophthalmia or as a variant of the group of cyclopian monsters. Popular conception pictures cyclops in the more classical and spectacular form of a single median-eyed individual, whereas the teratologists have shown this type of monstrosity to embrace many grades of incomplete duplicity of the eyes. A difficulty is the lack of data, which a postmortem examination would have supplied, concerning the state of the visual apparatus within the skull, and the condition of the frontal lobes and lateral ventricles of the brain, and the floor of the anterior fossa. The literature contains records of total congenital absence of the visual apparatus, without associated changes in the orbits or other derivatives of the primitive frontonasal and maxillary processes, the ultimate form of which is believed to be dependent upon the primary development

Fig. L-Case of the anterior of the orbits.

of human cyclopia. The roentgenologic fossa of the skull, and (2) elevation,

features approximation

are

(1) and

shallowness shallowness

of the optic “anlage.“8 Unfortunately such reports are mainly neurologic studies, and observations bearing upon the possible teratologic relationship of anophthalmia to cyclopia are wanting. Both Spiller’s14 case and the case of Haab, quoted by Spiller, lived a number of years exhibiting other abnormalities, chiefly peripheral spasticities referable to the central nervous system, but without deformity of the frontal lobes, the face, or anterior portion of the skull. It is possible that some of these cases represent the result of regressive or atrophic processes in the retina and optic tracts, from syphilitic or other intrauterine disease occurring at a later date in embryonic life that the extremely early periods ascribed to the “developmental arrests”‘? *yl1 responsible for cyclopia. On the other” hand, the examples of cyclopia described in hurnam+ 8* I1 and those produced experimentally in lower order9 seem to present more or less mature vestiges of the whole visual apparatus,

BACHMAN

:

HUMAN

CYCLOPIA

RESEMBLING

ANOPHTHALMIA

801

whatever the variety or degree of duplicity or unity within the system, thus indicating early perversion of development rather than secondary decay. Around the defective visual organs the “nonocular” material is vested, taking form according to the degree of separation of the various structures of the eye, the frontonasal process descending in a general way in proportion to the degree of ,this sepasation. True human cyclopian monsters apparently do not survive. The possible varieties of cyclopia are therefore legion. The attempt of Saint-Hilaire in 183212* la to establish five “species” in the human was followed by more elastic schemes proposed in 1880 by Ahlfeld and in 1900 by Bock;* it is not unlikely the nu.merous variants suggested by modern experimental work renders inadequate all subdivisions within the general class or group “Cyclopia.” The specimen described is believed to belong to this group of beings, despit.e the fact that the defects are apparently minimal, and might be consistent with a viable and deformed, rather than monstrous, individual. It approximates very closely the first type described by Bock, the case of Reeker and Buhl illustrated by Hirst and Piersol,l” and SaintHilaire ‘s ‘ ‘ Cebocephalus ” of which only six instances were recorded prior to 1885 according to Dareste.5 The literature of cyelopia has been amply compiled in the more recent reviews included in the appended references. REFERENCES

J. .F.: Die Missbildungen des Mensehen, Leipsic, 188682. (2) Jour. Comp. Neurol., 1913, xxiii, 193. (3) Chidsster, F. E.: Am. N$ur$st, 1923, lvii, 496. (4) Cleland, J.: Jour. Aaat. and Physiol., 1878, (5) Dare&e, C.: Recherches sur la production artificielle des mons&oeities, Paris, 1891. (6) Dmland, W. A. N., an.8 Hdwng, M. J.: The X-Ray in Embryology and Obstetrics, Saint Paul, Minn., 1926. (7) Hwwwer, A.: Anencephalia, Cyclopia, Synotia, Copenhagen, 1882. (8) XGZ, E.: Arch. Ophthal., 1920, xiii, 597. (9) Quoted by p’on. Hippd, E. : “Cyclops.” Graefe-Saemieoh Handbuch d. gesamt. Augenheilk., Ed. 2, Leipsic, 1900, ii, vol. 1, p, 93. (10) H&t, B. C., and piersol, G. A.: Human Monstrosities, Philadelphia, 18!)1-93. (11) M&Z, B. P.: No. 15, Carnegie Institute of Washington, 1917, vi. (12) St. Hi&he, 1. G.: Traite de Teratologie, Bruxepes, 1837. (13) St. HiZaire, I. G.: Hi&&e generale et particnliere des anomalies de l’organisation, 1832-36. (14) &U&r, W. G.: Contributions from the William Pepper Laboratory of Clinical Medieina, No. 3, Philadelphia, 1902. (15) Stockard, C. 22.: Am. Jour. Aoat., 1921, xxviii, 115. (1) Black,

Ahlfeld, D. D.: