Jon M. Aase

Normal inner canthal and outer orbital dimensions

Summary Measurements of 472 Caucasian subjects yielded data for the normal ranges of inner canthal and outer orbital distances. An appreciation of these normal lateral dimensions and relative rates of growth should help the clinician in judgements concerning ocular hypertelorism and other questions of unusual development in this part of the face.

Congenital anemia and triphalangeal thumbs: A new syndrome*

Summary A new syndrome of congenital hypoplastic anemia and triphalangeal thumbs has been found in two brothers, at least one of whom also has a congenital heart defect. It is not possible from the present data to discriminate between X-linked and autosomal recessive modes of inheritance. This condition is clearly distinguishable from Fanconis fancytopenia, the radial aplasia-thrombocytopenia, and the Holt-Oram syndromes by physical and hematologic criteria.

Larsen's syndrome: A skeletal dysplasia with multiple joint dislocations and unusual facies

An infant is described who has multiple joint dislocations, unusual facies, andboney abnormalities, which constitute a syndrome first reported by Larsen. This report expands Larsens syndrome with the following additional findings: apparent diminished rigidity of cartilage in early infancy, extra finger creases, short fingernails, and an unusual juxtacalcaneal “accessory” bone. Both infant and mother have a flattened nasal bridge. Recognition of this syndrome is important because of the implications for counseling. Affected individuals can be expected to have normal central nervous system development, but the joint abnormalities require prolonged orthopedic treatment; achievement of completely normal function is unlikely.

Polygenic inheritance of certain common malformations. Evidence and empiric recurrence risk data.

Knowledge regarding the precise etiology of single common malformations is inexact. However, presently available indirect evidence suggests that the combination of a number of genic factors, or polygenic inheritance, is the most likely explanation for the majority of them.

Dysmorphogenesis of joints, brain, and palate: A new dominantly inherited syndrome

Recently, it has been suggested by Vitale, Opitz, and Shabidi (Soc. Pediat. Res., Abst., p. 130, 1968) that the basic genetic defect in children with the cerebro-hepato-renal syndrome lies in the regulation of transport of iron. They reported heavy deposits of hemosiderin in the liver, spleen, kidney, pancreas, and bone marrow of their patient. Increased amounts of hemosiderin were not found in the bone marrow or liver of our patient. However, a second patient with the characteristic facies, hypotonia, calcification of the patellae, and glaucoma is being followed who has jaundice, hemolysis, and more than 200 /~g per cent of iron in the serum. No hemosiderin has been found in a smear of the bone marrow. We are grateful to the following physicians who participated in the care of this patient: Drs. Perry Grossman, Stanley M. Moyer, Anthony J. Pelleggi, Lester Weiss, and James B. Arey. Dr. Arey reviewed the autopsy material at St. Christophers Hospital for Children.

Facial asymmetry and abnormalties of palms and ears: A dominantly inherited developmental syndrome

Case 1. The propositus was first seen at 9 months of age because of facial asymmetry (Fig. 1). He was born after a normal full-term pregnancy to a 22-year-old mother and 25-yearold father. Birth weight was 7 pounds 4 ounces and length was 2I~2 inches. Asymmetry of the face and skull was noted at birth. A diagnosis of left lacrymal duct atresia was made at age 6 months, following recurrent dacrocystitis. Otherwise, his general health and developmental progress had been normal. Physical examination at 9 months of age revealed an active, well-developed male infant. There was hypoplasia of the left side of the face and forehead with parietal bossing; the nose was deviated to the right, and the ears were small with unusual prominence of the crus and antihelix (Fig. 2). Analysis of the dermatoglyphics showed a distal axial palmar triradius on the right, a radial loop pattern on the right thumb, and bilateral simian creases. Hypoplasia of the left maxilla and mandible were confirmed by roentgenograms.