3M syndrome patient with a novel mutation: A case report

Table 1 Clinical characteristics and molecular findings of the patient

Age	15 yr
Gender	Female
Weight	30 kg
Height	166 cm
BMI	10.89
Facial features
Relative macrocephaly	-
Dolichocephaly	-
Triangular face	-
Hypoplastic midface	-
Fleshy nasal tip	-
Long philtrum	-
Full lips	-
Pointed chin	-
Musculoskeletal features
Short broad neck	-
Square shoulders	+
Short thorax	-
Sternal anomaly	-
Hyperlordosis	-
Generalized or isolated joint hypermobility	-
Prominent heels, and pes planus	-
Genitourinary anomalies	-
Intelligence	Normal
Radiographic features
Long slender tubular bones	+
Tall vertebra	-
Wedging of the thoracic vertebral bodies	-
Thoracic kyphoscoliosis	+
Small pelvis	+
Molecular findings
Karyotype	46, XX
Gene	OBSL1(NM_015311)
Variation (DNA)	c.5683+1G>C and c.3341G>A
Variation (protein)	Splice-3 and p.Trp1114Ter
Novelty	Novel and Known
ACMG classification	Pathogenic

ACMG: The American College of Medical Genetics and Genomics; BMI: Body mass index.