Brief Clinical Report

Tall Stature, Microcephaly, Hypotonia, AdvancedBone Age, and Unusual Infra-Auricular Creases

Robert F. Stratton*Department of Pediatrics, Division of Genetics and Birth Defects, University of Texas Health Science Center at SanAntonio, San Antonio, Texas

The patient is a 16-month-old girl with tallstature, hypotonia, unusual facial appear-ance, acquired microcephaly, advancedbone age without apparent sexual precocityor acromegaly, and symmetric horizontalcreases below the earlobes. Her combina-tion of anomalies appears to constitute apreviously unreported syndrome. Am. J.Med. Genet. 75:261–262, 1998.© 1998 Wiley-Liss, Inc.

KEY WORDS: tall stature; advanced boneage; infra-auricular creases

INTRODUCTIONOvergrowth may be primary and prenatal with per-

sisting postnatal overgrowth. Wiedemann-Beckwith,Sotos, Weaver, Marshall-Smith, and Simpson-Golabi-Behmel syndromes fall into this category. Postnatalovergrowth can be seen in XYY males, Klinefelter syn-drome, fragile X syndrome, congenital contracturalarachnodactyly, and Marfan syndrome. It is morelikely secondary to overproduction of sex hormones(precocious puberty), growth hormone (acromegaly), orthyroid hormone, all of which can accelerate skeletalmaturation. This report concerns a 16-month-old girlwith slight pre- and postnatal overgrowth, advancedbone age, secondary microcephaly, hypotonia, and un-usual horizontal creases below both earlobes.

CLINICAL REPORTThe patient was born at 39 of weeks gestation to

healthy nonconsanguineous parents of mixed US na-tional extractions. Birth weight was 3.23 kg (sl < 50thcentile) and length 51 cm (80th centile). Apgar scoreswere 7 and 9 and her 3-day nursery stay was uncom-plicated. Pregnancy history was noncontributory. Bothof the patient’s brothers are growing and developingnormally. One of her paternal uncles may have had

learning disabilities in school and a maternal aunt ofher father had a son with cleft palate.

Her OFC tracked along the 5th centile until aboutage 12 months when head growth slowed. She had onefever-related seizure and a second nonfebrile seizure atabout 15 months. EEG showed bilateral temporal lobeabnormalities, prompting treatment with Tegretolt.Cranial MRI was normal. At a chronological age of 123⁄4months, bone age was reported to be 21 months. Chro-mosome analysis showed a normal 46,XX female karyo-type. There have been no additional investigations.

Development was delayed. At 16 months she was onher hands and knees, but not yet crawling. She wouldhold objects and bring them to midline but had notswitched hands. She would feed herself table foods andsaid 3 words.

Physical examination at 16 months showed a lengthof 83.2 cm (95th centile), weight of 10.2 kg (50th cen-tile), and OFC of 43.4 cm (−3 SD). Her facial appear-ance was unusual (Fig. 1) and different from that of herparents. The head was normally shaped and the hairwas straight, blond, and of normal distribution, andtexture with bilateral posterior whorls. The eyebrowsand eyelashes were normal. Inner canthal distance was25 mm (50th centile) and interpupillary distance 43mm (25th centile). There was a left epicanthus palpe-bris and the malar area was relatively flat. The phil-trum was 11 mm long and flat. The upper lip wasslightly tented and everted. The palate and teeth werenormal. The ears were 50 mm (60th centile) and nor-mally placed and angulated. The antihelices wereslightly prominent, as was seen in her mother. Therewere deep, fixed, horizontal creases inferior to bothearlobes (Fig. 2). These were not surrounded by hypo-plastic skin, nor did they follow the sternocleidomas-toid muscle. There were no tracts or masses in theneck. The upper limbs were proportionate with fullrange of motion of the large joints. Palm length was 60mm (75th centile) and middle finger length was 3.6 cm(10th centile). The thumbs appeared proximally placedwith short metacarpals. The nails and palmar creaseswere normal. There was no camptodactyly. The chestand abdomen were normal. There were no palpablebreast buds. The external genitalia were a normal Tan-ner I female without signs of adrenarche. The feet were

*Correspondence to: Dr. Robert F. Stratton, Department of Pe-diatrics, UTHSCSA, 7703 Floyd Curl Dr., San Antonio, TX 78284-7809.

Received 23 December 1996; Accepted 7 March 1997

American Journal of Medical Genetics 75:261–262 (1998)

© 1998 Wiley-Liss, Inc.

10.7 cm (3rd centile) and normal. There were no vas-cular or pigmentary changes of the skin.

DISCUSSIONThe patient is taller than expected from parental and

sib heights. She has not had significant acceleration oflength since birth, as seen in Weaver and Sotos syn-dromes. This would tend to also rule out untreated hor-monal causes of her advanced bone age. She does nothave macrocephaly or large hands and feet that areusually seen with Sotos syndrome, Marfan syndrome,congenital contractural arachnodactyly, and femalecarriers of Simpson-Golabi-Behmel syndrome. Al-though our patient has hypotonia and prominent anti-helices, she does not have the hand findings of the sib-lings reported by Richeri-Costa et al. [1993]. She doesnot have the anomalies or the recognized clinicalcourse of hypoglycemia of MORFAN [Seemanova et al.,1993]. She does not have the obesity reported in thepatient of Babul et al. [1996] with maternal uniparen-tal disomy of 15q11–13. Her infra-auricular ear creasesare unusual and to my knowledge have never been re-ported before.

REFERENCESBabul R, Chitayat D, Friedman J, Teshima I, Strasberg P, Steele L, Ray P

(1996): Overgrowth in a patient with maternal uniparental disomy of15q11–13. Am J Hum Genet 59 (Suppl):A87.

Richeri-Costa A, Guion-Almeida ML, Cohen MM (1993): Newly recognizedautosomal recessive MCA/MR/overgrowth syndrome. Am J Med Genet47:278–280.

Seemanova E, Rudiger HW, Dreyer M (1993): MORFAN: A new syndromecharacterized by mental retardation, pre- and postnatal overgrowth,remarkable face and acanthosis nigrans in a 5-year-old boy. Am J MedGenet 45:525–528.

Fig. 1. Frontal view of the patient showing minor anomalies.

Fig. 2. Profile views of the patient showing malar flattening, mild retrognathia, and crease below each earlobe.

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