Pediatric Annals

A Pediatrician's View

Milton I Levine, MD

Abstract

Almost every pediatrician has had the experience of being faced with a strange-looking infant or child and wondering whether the appearance has simply to do with familial make-up or whether it represents a syndrome, genetic or otherwise. It may be the shape of the eyes, ears, nose, mouth, cheekbones, or chin. It may be the color of the hair, a different color in each eye, the distance between the eyes, the distance from the bottom of the nose to the upper lip, size of the mouth - the possibilities are almost endless.

Most practicing pediatricians are capable of recognizing the facies in Down's syndrome, cretinism, and the Pierre-Robin syndrome. Most of us, in describing certain strange faces, have used such nonspecific terms as "birdlike features," "elfin face," "moon face," and "cherubic face." Many of us have hoped for or looked for some to which we could turn for aid in determining whether a particular feature or combination of features represented some genetic syndrome.

Some months ago I read an article on by Dr. Robert J. Gorlin the University of Minnesota. It was that he had far more than the knowledge of features of the face and was interested in factors that might influence features.

I soon learned that Dr. Gorlin, who a professor of dentistry at Minnewas a recognized authority on the and has for years had a special in the face as a reflection of syndromes. He has apbefore many scientific societies this and has written on the in numerous scientific magaincluding Pediatrics, the AmeriJournal of Diseases of Chileiren, Surgery, and Birth Defects. In he published a book, Syndromes of the Head and Neck.

1 asked Dr. Gorlin, therefore, if he would act as Guest Editor for two issues of PEDIATRIC ANNALS on the subject of the face in the diagnosis ofr various syndromes observed during infancy and childhood.

In these two issues Dr. Gorlin and his associates, Drs. Heddie O. Sedano and William S. Boggs, describe fully and illustrate 90 genetic syndromes in which evidence is expressed in facial morphology. In addition, they not only describe the facies of these children but also detail the other bodily features of the syndromes and, where possible, the actual or suggested causes.

To my knowledge this is the first time that such a text has been made freely available to the pediatrician; he can readily turn to it for reference on facial peculiarities that may represent genetic origin rather than temporary malformations, such as those due to mumps, angioneurotic edema, or nephrosis. This makes the following two issues of PEDIATRIC ANNALS of particular value.

We realize, however, that it is difficult for the pediatrician to memorize the large number of pictures and complexes we are presenting. Without some index a particular condition might be hard to define. Dr. Gorlin has stated that there are so many combinations of facial changes that classification is almost impossible.

Nevertheless, we are going to attempt an index; if we are successful, it will appear in the next issue.

Furthermore, in order to clarify some of the terminology, we have included a glossary in this and the succeeding issue.

We are privileged to present this treatise by Dr. Gorlin and his associates and are certain that it will meet with the highest approval .…

Almost every pediatrician has had the experience of being faced with a strange-looking infant or child and wondering whether the appearance has simply to do with familial make-up or whether it represents a syndrome, genetic or otherwise. It may be the shape of the eyes, ears, nose, mouth, cheekbones, or chin. It may be the color of the hair, a different color in each eye, the distance between the eyes, the distance from the bottom of the nose to the upper lip, size of the mouth - the possibilities are almost endless.

Most practicing pediatricians are capable of recognizing the facies in Down's syndrome, cretinism, and the Pierre-Robin syndrome. Most of us, in describing certain strange faces, have used such nonspecific terms as "birdlike features," "elfin face," "moon face," and "cherubic face." Many of us have hoped for or looked for some to which we could turn for aid in determining whether a particular feature or combination of features represented some genetic syndrome.

Some months ago I read an article on by Dr. Robert J. Gorlin the University of Minnesota. It was that he had far more than the knowledge of features of the face and was interested in factors that might influence features.

I soon learned that Dr. Gorlin, who a professor of dentistry at Minnewas a recognized authority on the and has for years had a special in the face as a reflection of syndromes. He has apbefore many scientific societies this and has written on the in numerous scientific magaincluding Pediatrics, the AmeriJournal of Diseases of Chileiren, Surgery, and Birth Defects. In he published a book, Syndromes of the Head and Neck.

1 asked Dr. Gorlin, therefore, if he would act as Guest Editor for two issues of PEDIATRIC ANNALS on the subject of the face in the diagnosis ofr various syndromes observed during infancy and childhood.

In these two issues Dr. Gorlin and his associates, Drs. Heddie O. Sedano and William S. Boggs, describe fully and illustrate 90 genetic syndromes in which evidence is expressed in facial morphology. In addition, they not only describe the facies of these children but also detail the other bodily features of the syndromes and, where possible, the actual or suggested causes.

To my knowledge this is the first time that such a text has been made freely available to the pediatrician; he can readily turn to it for reference on facial peculiarities that may represent genetic origin rather than temporary malformations, such as those due to mumps, angioneurotic edema, or nephrosis. This makes the following two issues of PEDIATRIC ANNALS of particular value.

We realize, however, that it is difficult for the pediatrician to memorize the large number of pictures and complexes we are presenting. Without some index a particular condition might be hard to define. Dr. Gorlin has stated that there are so many combinations of facial changes that classification is almost impossible.

Nevertheless, we are going to attempt an index; if we are successful, it will appear in the next issue.

Furthermore, in order to clarify some of the terminology, we have included a glossary in this and the succeeding issue.

We are privileged to present this treatise by Dr. Gorlin and his associates and are certain that it will meet with the highest approval .

10.3928/0090-4481-19750301-03

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